A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-12

AUTHORS

Fateme Ziyaee, Eslam Shorafa, Hassan Dastsooz, Parham Habibzadeh, Hamid Nemati, Amir Saeed, Mohammad Silawi, Mohammad Ali Farazi Fard, Mohammad Ali Faghihi, Seyed Alireza Dastgheib

ABSTRACT

BACKGROUND: Muscular dystrophies are a clinically and genetically heterogeneous group of disorders characterized by variable degrees of progressive muscle degeneration and weakness. There is a wide variability in the age of onset, symptoms and rate of progression in subtypes of these disorders. Herein, we present the results of our study conducted to identify the pathogenic genetic variation involved in our patient affected by rigid spine muscular dystrophy. CASE PRESENTATION: A 14-year-old boy, product of a first-cousin marriage, was enrolled in our study with failure to thrive, fatigue, muscular dystrophy, generalized muscular atrophy, kyphoscoliosis, and flexion contracture of the knees and elbows. Whole-exome sequencing (WES) was carried out on the DNA of the patient to investigate all coding regions and uncovered a novel, homozygous missense mutation in SEPN1 gene (c. 1379 C > T, p.Ser460Phe). This mutation has not been reported before in different public variant databases and also our database (BayanGene), so it is classified as a variation of unknown significance (VUS). Subsequently, it was confirmed that the novel variation was homozygous in our patient and heterozygous in his parents. Different bioinformatics tools showed the damaging effects of the variant on protein. Multiple sequence alignment using BLASTP on ExPASy and WebLogo, revealed the conservation of the mutated residue. CONCLUSION: We reported a novel homozygous mutation in SEPN1 gene that expands our understanding of rigid spine muscular dystrophy. Although bioinformatics analyses of results were in favor of the pathogenicity of the mutation, functional studies are needed to establish the pathogenicity of the variant. More... »

PAGES

13

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s12881-018-0743-1

DOI

http://dx.doi.org/10.1186/s12881-018-0743-1

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1111412550

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30642275


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Shiraz University of Medical Sciences", 
          "id": "https://www.grid.ac/institutes/grid.412571.4", 
          "name": [
            "Department of Pediatrics, Shiraz University of Medical Sciences, Shiraz, Iran"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ziyaee", 
        "givenName": "Fateme", 
        "id": "sg:person.011565474176.56", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011565474176.56"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Shiraz University of Medical Sciences", 
          "id": "https://www.grid.ac/institutes/grid.412571.4", 
          "name": [
            "Department of Pediatrics, Shiraz University of Medical Sciences, Shiraz, Iran"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Shorafa", 
        "givenName": "Eslam", 
        "id": "sg:person.01212116551.60", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01212116551.60"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Turin", 
          "id": "https://www.grid.ac/institutes/grid.7605.4", 
          "name": [
            "Italian Institute for Genomic Medicine (IIGM), University of Turin, Turin, Italy", 
            "Persian BayanGene Research and Training Center, Dr. Faghihi\u2019s Medical Genetic Center, Shiraz, Iran"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Dastsooz", 
        "givenName": "Hassan", 
        "id": "sg:person.01062172216.14", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01062172216.14"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Shiraz University of Medical Sciences", 
          "id": "https://www.grid.ac/institutes/grid.412571.4", 
          "name": [
            "Persian BayanGene Research and Training Center, Dr. Faghihi\u2019s Medical Genetic Center, Shiraz, Iran", 
            "Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Habibzadeh", 
        "givenName": "Parham", 
        "id": "sg:person.01013300673.22", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01013300673.22"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Shiraz University of Medical Sciences", 
          "id": "https://www.grid.ac/institutes/grid.412571.4", 
          "name": [
            "Shiraz Neuroscience Research Center, Shiraz University of Medical Sciences, Shiraz, Iran"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nemati", 
        "givenName": "Hamid", 
        "id": "sg:person.0577267430.80", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0577267430.80"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Shiraz University of Medical Sciences", 
          "id": "https://www.grid.ac/institutes/grid.412571.4", 
          "name": [
            "Department of Pediatrics, Shiraz University of Medical Sciences, Shiraz, Iran"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Saeed", 
        "givenName": "Amir", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Persian BayanGene Research and Training Center, Dr. Faghihi\u2019s Medical Genetic Center, Shiraz, Iran"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Silawi", 
        "givenName": "Mohammad", 
        "id": "sg:person.01344312327.12", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01344312327.12"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Persian BayanGene Research and Training Center, Dr. Faghihi\u2019s Medical Genetic Center, Shiraz, Iran"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Farazi Fard", 
        "givenName": "Mohammad Ali", 
        "id": "sg:person.013623272357.56", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013623272357.56"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Miami", 
          "id": "https://www.grid.ac/institutes/grid.26790.3a", 
          "name": [
            "Persian BayanGene Research and Training Center, Dr. Faghihi\u2019s Medical Genetic Center, Shiraz, Iran", 
            "Department of Psychiatry and Behavioral Sciences, University of Miami Miller School of Medicine, Miami, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Faghihi", 
        "givenName": "Mohammad Ali", 
        "id": "sg:person.0765270443.33", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0765270443.33"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Shiraz University of Medical Sciences", 
          "id": "https://www.grid.ac/institutes/grid.412571.4", 
          "name": [
            "Persian BayanGene Research and Training Center, Dr. Faghihi\u2019s Medical Genetic Center, Shiraz, Iran", 
            "Department of Genetic, Shiraz University of Medical Sciences, Shiraz, Iran"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Dastgheib", 
        "givenName": "Seyed Alireza", 
        "id": "sg:person.01235740276.97", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01235740276.97"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1007/s10048-006-0046-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001735382", 
          "https://doi.org/10.1007/s10048-006-0046-0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10048-006-0046-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001735382", 
          "https://doi.org/10.1007/s10048-006-0046-0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng713", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003049110", 
          "https://doi.org/10.1038/ng713"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng713", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003049110", 
          "https://doi.org/10.1038/ng713"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.nmd.2005.03.006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004219688"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1038/sj.embor.7400648", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004522760"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1038/sj.embor.7400648", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004522760"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/978-3-319-41283-2_44", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004869669", 
          "https://doi.org/10.1007/978-3-319-41283-2_44"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00109-012-0896-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005508532", 
          "https://doi.org/10.1007/s00109-012-0896-x"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0140-6736(11)61452-9", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005650332"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.bbadis.2006.09.006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007532004"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0960-8966(99)00055-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008879379"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/ddu602", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009340934"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.0806015105", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010739543"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/mop.0b013e32834877da", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011299089"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/mop.0b013e32834877da", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011299089"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/brain/awp236", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011826947"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/1531-8249(200002)47:2<152::aid-ana4>3.0.co;2-u", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013794110"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/ddg115", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016240328"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.nmd.2004.11.004", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016999163"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00431-015-2685-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017726595", 
          "https://doi.org/10.1007/s00431-015-2685-3"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1016/j.nurt.2008.08.005", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021805073", 
          "https://doi.org/10.1016/j.nurt.2008.08.005"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.20879", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028523970"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejmcibr1402199", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028757074"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ana.23548", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029190375"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s1474-4422(09)70272-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033664299"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ana.20761", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033947507"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ana.20761", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033947507"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/0883073810381924", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034493862"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/0883073810381924", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034493862"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1471-213x-9-46", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039357233", 
          "https://doi.org/10.1186/1471-213x-9-46"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/wco.0b013e32830efdc2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039865163"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/wco.0b013e32830efdc2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039865163"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0140-6736(02)07815-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041488579"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.tibs.2013.12.007", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044822175"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1096/fj.201600424", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046443256"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ana.20077", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049770354"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1074/jbc.m116.756155", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058215655"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/342719", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058639499"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.1083516", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062448022"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/01.wnl.0000149755.85666.db", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064346739"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/01.wnl.0000149755.85666.db", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064346739"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/01.wnl.0000149755.85666.db", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064346739"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0b013e31821f467c", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064356242"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0b013e31821f467c", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064356242"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0b013e31821f467c", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064356242"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1080535519", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/003591577306600304", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1080535519"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s12881-017-0439-y", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1091241325", 
          "https://doi.org/10.1186/s12881-017-0439-y"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s12881-017-0439-y", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1091241325", 
          "https://doi.org/10.1186/s12881-017-0439-y"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2019-12", 
    "datePublishedReg": "2019-12-01", 
    "description": "BACKGROUND: Muscular dystrophies are a clinically and genetically heterogeneous group of disorders characterized by variable degrees of progressive muscle degeneration and weakness. There is a wide variability in the age of onset, symptoms and rate of progression in subtypes of these disorders. Herein, we present the results of our study conducted to identify the pathogenic genetic variation involved in our patient affected by rigid spine muscular dystrophy.\nCASE PRESENTATION: A 14-year-old boy, product of a first-cousin marriage, was enrolled in our study with failure to thrive, fatigue, muscular dystrophy, generalized muscular atrophy, kyphoscoliosis, and flexion contracture of the knees and elbows. Whole-exome sequencing (WES) was carried out on the DNA of the patient to investigate all coding regions and uncovered a novel, homozygous missense mutation in SEPN1 gene (c. 1379 C\u2009>\u2009T, p.Ser460Phe). This mutation has not been reported before in different public variant databases and also our database (BayanGene), so it is classified as a variation of unknown significance (VUS). Subsequently, it was confirmed that the novel variation was homozygous in our patient and heterozygous in his parents. Different bioinformatics tools showed the damaging effects of the variant on protein. Multiple sequence alignment using BLASTP on ExPASy and WebLogo, revealed the conservation of the mutated residue.\nCONCLUSION: We reported a novel homozygous mutation in SEPN1 gene that expands our understanding of rigid spine muscular dystrophy. Although bioinformatics analyses of results were in favor of the pathogenicity of the mutation, functional studies are needed to establish the pathogenicity of the variant.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1186/s12881-018-0743-1", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1024947", 
        "issn": [
          "1471-2350"
        ], 
        "name": "BMC Medical Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "20"
      }
    ], 
    "name": "A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report", 
    "pagination": "13", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "e717f46b542fc9da089652e52246cc8176022ed42be49310e6b4a77fbf84be1a"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "30642275"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "100968552"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1186/s12881-018-0743-1"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1111412550"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1186/s12881-018-0743-1", 
      "https://app.dimensions.ai/details/publication/pub.1111412550"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T08:41", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000320_0000000320/records_101403_00000000.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://link.springer.com/10.1186%2Fs12881-018-0743-1"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1186/s12881-018-0743-1'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/s12881-018-0743-1'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/s12881-018-0743-1'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/s12881-018-0743-1'


 

This table displays all metadata directly associated to this object as RDF triples.

267 TRIPLES      21 PREDICATES      67 URIs      21 LITERALS      9 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1186/s12881-018-0743-1 schema:about anzsrc-for:06
2 anzsrc-for:0604
3 schema:author Ne39f0fc86a43421fb850374bae27df92
4 schema:citation sg:pub.10.1007/978-3-319-41283-2_44
5 sg:pub.10.1007/s00109-012-0896-x
6 sg:pub.10.1007/s00431-015-2685-3
7 sg:pub.10.1007/s10048-006-0046-0
8 sg:pub.10.1016/j.nurt.2008.08.005
9 sg:pub.10.1038/ng713
10 sg:pub.10.1186/1471-213x-9-46
11 sg:pub.10.1186/s12881-017-0439-y
12 https://app.dimensions.ai/details/publication/pub.1080535519
13 https://doi.org/10.1002/1531-8249(200002)47:2<152::aid-ana4>3.0.co;2-u
14 https://doi.org/10.1002/ana.20077
15 https://doi.org/10.1002/ana.20761
16 https://doi.org/10.1002/ana.23548
17 https://doi.org/10.1002/humu.20879
18 https://doi.org/10.1016/j.bbadis.2006.09.006
19 https://doi.org/10.1016/j.nmd.2004.11.004
20 https://doi.org/10.1016/j.nmd.2005.03.006
21 https://doi.org/10.1016/j.tibs.2013.12.007
22 https://doi.org/10.1016/s0140-6736(02)07815-7
23 https://doi.org/10.1016/s0140-6736(11)61452-9
24 https://doi.org/10.1016/s0960-8966(99)00055-3
25 https://doi.org/10.1016/s1474-4422(09)70272-8
26 https://doi.org/10.1038/sj.embor.7400648
27 https://doi.org/10.1056/nejmcibr1402199
28 https://doi.org/10.1073/pnas.0806015105
29 https://doi.org/10.1074/jbc.m116.756155
30 https://doi.org/10.1086/342719
31 https://doi.org/10.1093/brain/awp236
32 https://doi.org/10.1093/hmg/ddg115
33 https://doi.org/10.1093/hmg/ddu602
34 https://doi.org/10.1096/fj.201600424
35 https://doi.org/10.1097/mop.0b013e32834877da
36 https://doi.org/10.1097/wco.0b013e32830efdc2
37 https://doi.org/10.1126/science.1083516
38 https://doi.org/10.1177/003591577306600304
39 https://doi.org/10.1177/0883073810381924
40 https://doi.org/10.1212/01.wnl.0000149755.85666.db
41 https://doi.org/10.1212/wnl.0b013e31821f467c
42 schema:datePublished 2019-12
43 schema:datePublishedReg 2019-12-01
44 schema:description BACKGROUND: Muscular dystrophies are a clinically and genetically heterogeneous group of disorders characterized by variable degrees of progressive muscle degeneration and weakness. There is a wide variability in the age of onset, symptoms and rate of progression in subtypes of these disorders. Herein, we present the results of our study conducted to identify the pathogenic genetic variation involved in our patient affected by rigid spine muscular dystrophy. CASE PRESENTATION: A 14-year-old boy, product of a first-cousin marriage, was enrolled in our study with failure to thrive, fatigue, muscular dystrophy, generalized muscular atrophy, kyphoscoliosis, and flexion contracture of the knees and elbows. Whole-exome sequencing (WES) was carried out on the DNA of the patient to investigate all coding regions and uncovered a novel, homozygous missense mutation in SEPN1 gene (c. 1379 C > T, p.Ser460Phe). This mutation has not been reported before in different public variant databases and also our database (BayanGene), so it is classified as a variation of unknown significance (VUS). Subsequently, it was confirmed that the novel variation was homozygous in our patient and heterozygous in his parents. Different bioinformatics tools showed the damaging effects of the variant on protein. Multiple sequence alignment using BLASTP on ExPASy and WebLogo, revealed the conservation of the mutated residue. CONCLUSION: We reported a novel homozygous mutation in SEPN1 gene that expands our understanding of rigid spine muscular dystrophy. Although bioinformatics analyses of results were in favor of the pathogenicity of the mutation, functional studies are needed to establish the pathogenicity of the variant.
45 schema:genre research_article
46 schema:inLanguage en
47 schema:isAccessibleForFree true
48 schema:isPartOf N1f40b00f584e49e3b5f7c2c6c7a105ce
49 N2aff31aeae884d67bfc3b40a77da0554
50 sg:journal.1024947
51 schema:name A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report
52 schema:pagination 13
53 schema:productId N14ddcaa1ab574bff947f870e5e32d2b2
54 N2eec58d9dd6d4d629549069bda448105
55 Nd0e1e2c83a6845be850fc167b213f32d
56 Nd26de37ea7fb4be9a96758e6b698b1ff
57 Ndcf175eea21144f3b3f4ad47f7ca1d0a
58 schema:sameAs https://app.dimensions.ai/details/publication/pub.1111412550
59 https://doi.org/10.1186/s12881-018-0743-1
60 schema:sdDatePublished 2019-04-11T08:41
61 schema:sdLicense https://scigraph.springernature.com/explorer/license/
62 schema:sdPublisher N3faf0e527fbe4b23b5285bfd5150b976
63 schema:url https://link.springer.com/10.1186%2Fs12881-018-0743-1
64 sgo:license sg:explorer/license/
65 sgo:sdDataset articles
66 rdf:type schema:ScholarlyArticle
67 N0283327b7ee5432e8bd7c13ea522234e rdf:first sg:person.0765270443.33
68 rdf:rest N311a15bb8d1046789ec948e456164f9d
69 N0f72568333684d7b8f295ffc9d358f13 rdf:first sg:person.0577267430.80
70 rdf:rest Nf5261fc0a10e4e98bf65d704393be0e4
71 N14ddcaa1ab574bff947f870e5e32d2b2 schema:name doi
72 schema:value 10.1186/s12881-018-0743-1
73 rdf:type schema:PropertyValue
74 N1f40b00f584e49e3b5f7c2c6c7a105ce schema:volumeNumber 20
75 rdf:type schema:PublicationVolume
76 N237875d2bc2240369253b32bf170523a rdf:first sg:person.01344312327.12
77 rdf:rest Nf68990c77753485f99b5ac627fc9f6c7
78 N2aff31aeae884d67bfc3b40a77da0554 schema:issueNumber 1
79 rdf:type schema:PublicationIssue
80 N2eec58d9dd6d4d629549069bda448105 schema:name readcube_id
81 schema:value e717f46b542fc9da089652e52246cc8176022ed42be49310e6b4a77fbf84be1a
82 rdf:type schema:PropertyValue
83 N311a15bb8d1046789ec948e456164f9d rdf:first sg:person.01235740276.97
84 rdf:rest rdf:nil
85 N3faf0e527fbe4b23b5285bfd5150b976 schema:name Springer Nature - SN SciGraph project
86 rdf:type schema:Organization
87 N4dc2b51ee895449bb5a7c5d6939cb152 schema:name Persian BayanGene Research and Training Center, Dr. Faghihi’s Medical Genetic Center, Shiraz, Iran
88 rdf:type schema:Organization
89 N7696e45ad3a54c968686769ba8124279 schema:name Persian BayanGene Research and Training Center, Dr. Faghihi’s Medical Genetic Center, Shiraz, Iran
90 rdf:type schema:Organization
91 N9949d5a7e86d436397a513ec14ca56cf rdf:first sg:person.01013300673.22
92 rdf:rest N0f72568333684d7b8f295ffc9d358f13
93 Nc0e84d8021e7426baef20a262497be60 rdf:first sg:person.01062172216.14
94 rdf:rest N9949d5a7e86d436397a513ec14ca56cf
95 Nc76d8afde55049ab9d963e413503573b schema:affiliation https://www.grid.ac/institutes/grid.412571.4
96 schema:familyName Saeed
97 schema:givenName Amir
98 rdf:type schema:Person
99 Nce0b90cdbafb477ea3646e8e7a93ec5b rdf:first sg:person.01212116551.60
100 rdf:rest Nc0e84d8021e7426baef20a262497be60
101 Nd0e1e2c83a6845be850fc167b213f32d schema:name nlm_unique_id
102 schema:value 100968552
103 rdf:type schema:PropertyValue
104 Nd26de37ea7fb4be9a96758e6b698b1ff schema:name pubmed_id
105 schema:value 30642275
106 rdf:type schema:PropertyValue
107 Ndcf175eea21144f3b3f4ad47f7ca1d0a schema:name dimensions_id
108 schema:value pub.1111412550
109 rdf:type schema:PropertyValue
110 Ne39f0fc86a43421fb850374bae27df92 rdf:first sg:person.011565474176.56
111 rdf:rest Nce0b90cdbafb477ea3646e8e7a93ec5b
112 Nf5261fc0a10e4e98bf65d704393be0e4 rdf:first Nc76d8afde55049ab9d963e413503573b
113 rdf:rest N237875d2bc2240369253b32bf170523a
114 Nf68990c77753485f99b5ac627fc9f6c7 rdf:first sg:person.013623272357.56
115 rdf:rest N0283327b7ee5432e8bd7c13ea522234e
116 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
117 schema:name Biological Sciences
118 rdf:type schema:DefinedTerm
119 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
120 schema:name Genetics
121 rdf:type schema:DefinedTerm
122 sg:journal.1024947 schema:issn 1471-2350
123 schema:name BMC Medical Genetics
124 rdf:type schema:Periodical
125 sg:person.01013300673.22 schema:affiliation https://www.grid.ac/institutes/grid.412571.4
126 schema:familyName Habibzadeh
127 schema:givenName Parham
128 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01013300673.22
129 rdf:type schema:Person
130 sg:person.01062172216.14 schema:affiliation https://www.grid.ac/institutes/grid.7605.4
131 schema:familyName Dastsooz
132 schema:givenName Hassan
133 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01062172216.14
134 rdf:type schema:Person
135 sg:person.011565474176.56 schema:affiliation https://www.grid.ac/institutes/grid.412571.4
136 schema:familyName Ziyaee
137 schema:givenName Fateme
138 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011565474176.56
139 rdf:type schema:Person
140 sg:person.01212116551.60 schema:affiliation https://www.grid.ac/institutes/grid.412571.4
141 schema:familyName Shorafa
142 schema:givenName Eslam
143 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01212116551.60
144 rdf:type schema:Person
145 sg:person.01235740276.97 schema:affiliation https://www.grid.ac/institutes/grid.412571.4
146 schema:familyName Dastgheib
147 schema:givenName Seyed Alireza
148 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01235740276.97
149 rdf:type schema:Person
150 sg:person.01344312327.12 schema:affiliation N4dc2b51ee895449bb5a7c5d6939cb152
151 schema:familyName Silawi
152 schema:givenName Mohammad
153 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01344312327.12
154 rdf:type schema:Person
155 sg:person.013623272357.56 schema:affiliation N7696e45ad3a54c968686769ba8124279
156 schema:familyName Farazi Fard
157 schema:givenName Mohammad Ali
158 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013623272357.56
159 rdf:type schema:Person
160 sg:person.0577267430.80 schema:affiliation https://www.grid.ac/institutes/grid.412571.4
161 schema:familyName Nemati
162 schema:givenName Hamid
163 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0577267430.80
164 rdf:type schema:Person
165 sg:person.0765270443.33 schema:affiliation https://www.grid.ac/institutes/grid.26790.3a
166 schema:familyName Faghihi
167 schema:givenName Mohammad Ali
168 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0765270443.33
169 rdf:type schema:Person
170 sg:pub.10.1007/978-3-319-41283-2_44 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004869669
171 https://doi.org/10.1007/978-3-319-41283-2_44
172 rdf:type schema:CreativeWork
173 sg:pub.10.1007/s00109-012-0896-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1005508532
174 https://doi.org/10.1007/s00109-012-0896-x
175 rdf:type schema:CreativeWork
176 sg:pub.10.1007/s00431-015-2685-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017726595
177 https://doi.org/10.1007/s00431-015-2685-3
178 rdf:type schema:CreativeWork
179 sg:pub.10.1007/s10048-006-0046-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001735382
180 https://doi.org/10.1007/s10048-006-0046-0
181 rdf:type schema:CreativeWork
182 sg:pub.10.1016/j.nurt.2008.08.005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021805073
183 https://doi.org/10.1016/j.nurt.2008.08.005
184 rdf:type schema:CreativeWork
185 sg:pub.10.1038/ng713 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003049110
186 https://doi.org/10.1038/ng713
187 rdf:type schema:CreativeWork
188 sg:pub.10.1186/1471-213x-9-46 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039357233
189 https://doi.org/10.1186/1471-213x-9-46
190 rdf:type schema:CreativeWork
191 sg:pub.10.1186/s12881-017-0439-y schema:sameAs https://app.dimensions.ai/details/publication/pub.1091241325
192 https://doi.org/10.1186/s12881-017-0439-y
193 rdf:type schema:CreativeWork
194 https://app.dimensions.ai/details/publication/pub.1080535519 schema:CreativeWork
195 https://doi.org/10.1002/1531-8249(200002)47:2<152::aid-ana4>3.0.co;2-u schema:sameAs https://app.dimensions.ai/details/publication/pub.1013794110
196 rdf:type schema:CreativeWork
197 https://doi.org/10.1002/ana.20077 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049770354
198 rdf:type schema:CreativeWork
199 https://doi.org/10.1002/ana.20761 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033947507
200 rdf:type schema:CreativeWork
201 https://doi.org/10.1002/ana.23548 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029190375
202 rdf:type schema:CreativeWork
203 https://doi.org/10.1002/humu.20879 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028523970
204 rdf:type schema:CreativeWork
205 https://doi.org/10.1016/j.bbadis.2006.09.006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007532004
206 rdf:type schema:CreativeWork
207 https://doi.org/10.1016/j.nmd.2004.11.004 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016999163
208 rdf:type schema:CreativeWork
209 https://doi.org/10.1016/j.nmd.2005.03.006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004219688
210 rdf:type schema:CreativeWork
211 https://doi.org/10.1016/j.tibs.2013.12.007 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044822175
212 rdf:type schema:CreativeWork
213 https://doi.org/10.1016/s0140-6736(02)07815-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041488579
214 rdf:type schema:CreativeWork
215 https://doi.org/10.1016/s0140-6736(11)61452-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005650332
216 rdf:type schema:CreativeWork
217 https://doi.org/10.1016/s0960-8966(99)00055-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008879379
218 rdf:type schema:CreativeWork
219 https://doi.org/10.1016/s1474-4422(09)70272-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033664299
220 rdf:type schema:CreativeWork
221 https://doi.org/10.1038/sj.embor.7400648 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004522760
222 rdf:type schema:CreativeWork
223 https://doi.org/10.1056/nejmcibr1402199 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028757074
224 rdf:type schema:CreativeWork
225 https://doi.org/10.1073/pnas.0806015105 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010739543
226 rdf:type schema:CreativeWork
227 https://doi.org/10.1074/jbc.m116.756155 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058215655
228 rdf:type schema:CreativeWork
229 https://doi.org/10.1086/342719 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058639499
230 rdf:type schema:CreativeWork
231 https://doi.org/10.1093/brain/awp236 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011826947
232 rdf:type schema:CreativeWork
233 https://doi.org/10.1093/hmg/ddg115 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016240328
234 rdf:type schema:CreativeWork
235 https://doi.org/10.1093/hmg/ddu602 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009340934
236 rdf:type schema:CreativeWork
237 https://doi.org/10.1096/fj.201600424 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046443256
238 rdf:type schema:CreativeWork
239 https://doi.org/10.1097/mop.0b013e32834877da schema:sameAs https://app.dimensions.ai/details/publication/pub.1011299089
240 rdf:type schema:CreativeWork
241 https://doi.org/10.1097/wco.0b013e32830efdc2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039865163
242 rdf:type schema:CreativeWork
243 https://doi.org/10.1126/science.1083516 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062448022
244 rdf:type schema:CreativeWork
245 https://doi.org/10.1177/003591577306600304 schema:sameAs https://app.dimensions.ai/details/publication/pub.1080535519
246 rdf:type schema:CreativeWork
247 https://doi.org/10.1177/0883073810381924 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034493862
248 rdf:type schema:CreativeWork
249 https://doi.org/10.1212/01.wnl.0000149755.85666.db schema:sameAs https://app.dimensions.ai/details/publication/pub.1064346739
250 rdf:type schema:CreativeWork
251 https://doi.org/10.1212/wnl.0b013e31821f467c schema:sameAs https://app.dimensions.ai/details/publication/pub.1064356242
252 rdf:type schema:CreativeWork
253 https://www.grid.ac/institutes/grid.26790.3a schema:alternateName University of Miami
254 schema:name Department of Psychiatry and Behavioral Sciences, University of Miami Miller School of Medicine, Miami, USA
255 Persian BayanGene Research and Training Center, Dr. Faghihi’s Medical Genetic Center, Shiraz, Iran
256 rdf:type schema:Organization
257 https://www.grid.ac/institutes/grid.412571.4 schema:alternateName Shiraz University of Medical Sciences
258 schema:name Department of Genetic, Shiraz University of Medical Sciences, Shiraz, Iran
259 Department of Pediatrics, Shiraz University of Medical Sciences, Shiraz, Iran
260 Persian BayanGene Research and Training Center, Dr. Faghihi’s Medical Genetic Center, Shiraz, Iran
261 Shiraz Neuroscience Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
262 Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran
263 rdf:type schema:Organization
264 https://www.grid.ac/institutes/grid.7605.4 schema:alternateName University of Turin
265 schema:name Italian Institute for Genomic Medicine (IIGM), University of Turin, Turin, Italy
266 Persian BayanGene Research and Training Center, Dr. Faghihi’s Medical Genetic Center, Shiraz, Iran
267 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...