Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2012-10

AUTHORS

Miroslav Dumic, Nina Barišic, Vesna Kusec, Katarina Stingl, Mate Skegro, Andrija Stanimirovic, Katrin Koehler, Angela Huebner

ABSTRACT

The triple A syndrome (Allgrove syndrome, OMIM #231550) is caused by autosomal recessively inherited mutations in the AAAS gene on chromosome 12q13 encoding the nuclear pore protein ALADIN. This multisystemic disease is characterised by achalasia, alacrima, adrenal insufficiency and neurological impairment. We analyse long-term clinical follow-up and results of sequencing of the AAAS gene in eight patients with triple A syndrome aged from 2 to 35 years. At the time of diagnosis, all patients presented with alacrima, neurological dysfunction, dermatological abnormalities, seven of them with adrenal insufficiency and five of them with achalasia. Sequencing of the AAAS gene identified the p.S263P mutation in five of eight patients, supporting the hypothesis that this mutation is a founder mutation in Slavic population. One of the patients is homozygous for the p.S263P mutation, two are compound heterozygous for the p.S263P and the p.G14fs mutation, two are compound heterozygous for the p.S263Pro mutation and p.S296Y mutation, two are compound heterozygous for the p.G14fs and the p.Q387X mutations and one is homozygous for the p.Q387X mutation. In the course of the follow-up time of 4-29 years, progression of existing and appearance of new symptoms developed. Although severe, many of these symptoms presented in all six young adult patients are often overlooked or neglected: postural hypotension with blurred vision and syncope, hyposalivation resulting with complete edentulosis, talocrular contractures with permanent walking difficulties and erectile dysfunction in male patients. Triple A syndrome is a progressive debilitating disorder which may seriously affect quality of life and even be life-threatening in patients with severe neurological impairment. CONCLUSION: Long-term follow-up of patients with triple A syndrome revealed a variety of the clinical features involving many systems. Progressive natural course of the disease may seriously affect quality of life and even be life-threatening in patients with severe neurological impairment. More... »

PAGES

1453-1459

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00431-012-1745-1

DOI

http://dx.doi.org/10.1007/s00431-012-1745-1

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1026367373

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/22538409


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/2008/1103", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Clinical Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Adolescent", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Adrenal Insufficiency", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Adult", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child, Preschool", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chromosomes, Human, Pair 12", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Esophageal Achalasia", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Follow-Up Studies", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genes, Recessive", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genotype", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Pedigree", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "University Hospital Centre Zagreb", 
          "id": "https://www.grid.ac/institutes/grid.412688.1", 
          "name": [
            "Division of Endocrinology, Department of Pediatrics, University Hospital Centre Zagreb, Ki\u0161pati\u0107eva 12, 10000, Zagreb, Croatia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Dumic", 
        "givenName": "Miroslav", 
        "id": "sg:person.015126543554.77", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015126543554.77"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospital Centre Zagreb", 
          "id": "https://www.grid.ac/institutes/grid.412688.1", 
          "name": [
            "Division of Neurology, Department of Pediatrics, University Hospital Zagreb, Zagreb, Croatia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bari\u0161ic", 
        "givenName": "Nina", 
        "id": "sg:person.0745321177.09", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0745321177.09"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospital Centre Zagreb", 
          "id": "https://www.grid.ac/institutes/grid.412688.1", 
          "name": [
            "Tissue Typing Centre, Department of Laboratory Diagnostics, University Hospital Zagreb, Zagreb, Croatia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kusec", 
        "givenName": "Vesna", 
        "id": "sg:person.0722431107.82", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0722431107.82"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospital Centre Zagreb", 
          "id": "https://www.grid.ac/institutes/grid.412688.1", 
          "name": [
            "Tissue Typing Centre, Department of Laboratory Diagnostics, University Hospital Zagreb, Zagreb, Croatia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Stingl", 
        "givenName": "Katarina", 
        "id": "sg:person.01357124540.05", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01357124540.05"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospital Centre Zagreb", 
          "id": "https://www.grid.ac/institutes/grid.412688.1", 
          "name": [
            "Department of Surgery, University Hospital Zagreb, Zagreb, Croatia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Skegro", 
        "givenName": "Mate", 
        "id": "sg:person.01331041244.29", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01331041244.29"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Zagreb", 
          "id": "https://www.grid.ac/institutes/grid.4808.4", 
          "name": [
            "School of Health Studies, University of Zagreb, Zagreb, Croatia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Stanimirovic", 
        "givenName": "Andrija", 
        "id": "sg:person.01100317652.60", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01100317652.60"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "TU Dresden", 
          "id": "https://www.grid.ac/institutes/grid.4488.0", 
          "name": [
            "Children\u2019s Hospital, Technical University Dresden, Dresden, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Koehler", 
        "givenName": "Katrin", 
        "id": "sg:person.012405143237.53", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012405143237.53"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "TU Dresden", 
          "id": "https://www.grid.ac/institutes/grid.4488.0", 
          "name": [
            "Children\u2019s Hospital, Technical University Dresden, Dresden, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Huebner", 
        "givenName": "Angela", 
        "id": "sg:person.01222030375.14", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01222030375.14"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1038/ejhg.2008.132", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005975061", 
          "https://doi.org/10.1038/ejhg.2008.132"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1034/j.1399-0004.2003.00070.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015942462"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1080/08035250500538999", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017844213"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/adc.68.6.779", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018919314"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1080/17482960802259016", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019429169"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/brain/awf270", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023754653"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1080/13816810802502962", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024042733"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1515/jpem.2006.19.5.765", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026001422"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000161867", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028132863"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.211201898", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029356436"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00431-010-1222-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033302433", 
          "https://doi.org/10.1007/s00431-010-1222-7"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00431-010-1222-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033302433", 
          "https://doi.org/10.1007/s00431-010-1222-7"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1139/o05-198", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033743462"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.bbrc.2009.09.080", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034175988"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1399-0004.2009.01348.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034288244"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1399-0004.2009.01348.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034288244"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.0505598103", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036041978"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00431-010-1314-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037124543", 
          "https://doi.org/10.1007/s00431-010-1314-4"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ymgme.2007.08.116", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038927840"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf01972967", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039220356", 
          "https://doi.org/10.1007/bf01972967"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf01972967", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039220356", 
          "https://doi.org/10.1007/bf01972967"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1365-2265.1991.tb00279.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041799934"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1083/jcb.200206106", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045143206"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000092003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047585134"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000092003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047585134"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/81642", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047876179", 
          "https://doi.org/10.1038/81642"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/81642", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047876179", 
          "https://doi.org/10.1038/81642"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/10.3.283", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048033359"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf01958757", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050018367", 
          "https://doi.org/10.1007/bf01958757"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf01958757", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050018367", 
          "https://doi.org/10.1007/bf01958757"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/jc.80.7.2186", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064298331"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/jcem.80.7.7608277", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064319624"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.58.6.962", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064380707"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.58.6.962", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064380707"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.58.6.962", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064380707"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2012-10", 
    "datePublishedReg": "2012-10-01", 
    "description": "The triple A syndrome (Allgrove syndrome, OMIM #231550) is caused by autosomal recessively inherited mutations in the AAAS gene on chromosome 12q13 encoding the nuclear pore protein ALADIN. This multisystemic disease is characterised by achalasia, alacrima, adrenal insufficiency and neurological impairment. We analyse long-term clinical follow-up and results of sequencing of the AAAS gene in eight patients with triple A syndrome aged from 2 to 35 years. At the time of diagnosis, all patients presented with alacrima, neurological dysfunction, dermatological abnormalities, seven of them with adrenal insufficiency and five of them with achalasia. Sequencing of the AAAS gene identified the p.S263P mutation in five of eight patients, supporting the hypothesis that this mutation is a founder mutation in Slavic population. One of the patients is homozygous for the p.S263P mutation, two are compound heterozygous for the p.S263P and the p.G14fs mutation, two are compound heterozygous for the p.S263Pro mutation and p.S296Y mutation, two are compound heterozygous for the p.G14fs and the p.Q387X mutations and one is homozygous for the p.Q387X mutation. In the course of the follow-up time of 4-29 years, progression of existing and appearance of new symptoms developed. Although severe, many of these symptoms presented in all six young adult patients are often overlooked or neglected: postural hypotension with blurred vision and syncope, hyposalivation resulting with complete edentulosis, talocrular contractures with permanent walking difficulties and erectile dysfunction in male patients. Triple A syndrome is a progressive debilitating disorder which may seriously affect quality of life and even be life-threatening in patients with severe neurological impairment.\nCONCLUSION: Long-term follow-up of patients with triple A syndrome revealed a variety of the clinical features involving many systems. Progressive natural course of the disease may seriously affect quality of life and even be life-threatening in patients with severe neurological impairment.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1007/s00431-012-1745-1", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1017354", 
        "issn": [
          "0340-6199", 
          "1432-1076"
        ], 
        "name": "European Journal of Pediatrics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "10", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "171"
      }
    ], 
    "name": "Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome", 
    "pagination": "1453-1459", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "7d9ceff83aea33047ad361ed115474a816dece123f2a0c433fb35a512194240e"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "22538409"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "7603873"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s00431-012-1745-1"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1026367373"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s00431-012-1745-1", 
      "https://app.dimensions.ai/details/publication/pub.1026367373"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T22:24", 
    "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/v90/0000000001_0000000264/records_8690_00000481.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://link.springer.com/10.1007/s00431-012-1745-1"
  }
]
 

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.10.1007/s00431-012-1745-1'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s00431-012-1745-1'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s00431-012-1745-1'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s00431-012-1745-1'


 

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

270 TRIPLES      21 PREDICATES      70 URIs      35 LITERALS      23 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s00431-012-1745-1 schema:about N10b74a91c68e4e8e8cc98addfcd4882e
2 N160bfe77ad214dc69dde751dd3b39747
3 N178c5bb5930e41428992f941bb00871c
4 N1f6a0ad5ec144d42b0dad79bcbe443ac
5 N5c040bb4c0d243f29c2ef5542e332109
6 N5c59eb943150480e8dd8f251666716fe
7 N8ebbc3199aa549c1b54262eb27bd5db2
8 N9250adbc9bf84d1799c691e469948145
9 N9b4d5ded2da04b84a117a7384c1cc59c
10 N9f7652b66fdf4a4aba168aa9e1d02156
11 Nbab495f38700482db184493ca03d5a78
12 Nbf1eb21eca2748508e2db02b054dcd21
13 Nd3272726b6424b6e9a6022d9ae5e13e4
14 Ne653bd804bd441048c7b524228a83aa2
15 anzsrc-for:11
16 anzsrc-for:1103
17 schema:author N330a6848338548029b46328e2ce52605
18 schema:citation sg:pub.10.1007/bf01958757
19 sg:pub.10.1007/bf01972967
20 sg:pub.10.1007/s00431-010-1222-7
21 sg:pub.10.1007/s00431-010-1314-4
22 sg:pub.10.1038/81642
23 sg:pub.10.1038/ejhg.2008.132
24 https://doi.org/10.1016/j.bbrc.2009.09.080
25 https://doi.org/10.1016/j.ymgme.2007.08.116
26 https://doi.org/10.1034/j.1399-0004.2003.00070.x
27 https://doi.org/10.1073/pnas.0505598103
28 https://doi.org/10.1073/pnas.211201898
29 https://doi.org/10.1080/08035250500538999
30 https://doi.org/10.1080/13816810802502962
31 https://doi.org/10.1080/17482960802259016
32 https://doi.org/10.1083/jcb.200206106
33 https://doi.org/10.1093/brain/awf270
34 https://doi.org/10.1093/hmg/10.3.283
35 https://doi.org/10.1111/j.1365-2265.1991.tb00279.x
36 https://doi.org/10.1111/j.1399-0004.2009.01348.x
37 https://doi.org/10.1136/adc.68.6.779
38 https://doi.org/10.1139/o05-198
39 https://doi.org/10.1159/000092003
40 https://doi.org/10.1159/000161867
41 https://doi.org/10.1210/jc.80.7.2186
42 https://doi.org/10.1210/jcem.80.7.7608277
43 https://doi.org/10.1212/wnl.58.6.962
44 https://doi.org/10.1515/jpem.2006.19.5.765
45 schema:datePublished 2012-10
46 schema:datePublishedReg 2012-10-01
47 schema:description The triple A syndrome (Allgrove syndrome, OMIM #231550) is caused by autosomal recessively inherited mutations in the AAAS gene on chromosome 12q13 encoding the nuclear pore protein ALADIN. This multisystemic disease is characterised by achalasia, alacrima, adrenal insufficiency and neurological impairment. We analyse long-term clinical follow-up and results of sequencing of the AAAS gene in eight patients with triple A syndrome aged from 2 to 35 years. At the time of diagnosis, all patients presented with alacrima, neurological dysfunction, dermatological abnormalities, seven of them with adrenal insufficiency and five of them with achalasia. Sequencing of the AAAS gene identified the p.S263P mutation in five of eight patients, supporting the hypothesis that this mutation is a founder mutation in Slavic population. One of the patients is homozygous for the p.S263P mutation, two are compound heterozygous for the p.S263P and the p.G14fs mutation, two are compound heterozygous for the p.S263Pro mutation and p.S296Y mutation, two are compound heterozygous for the p.G14fs and the p.Q387X mutations and one is homozygous for the p.Q387X mutation. In the course of the follow-up time of 4-29 years, progression of existing and appearance of new symptoms developed. Although severe, many of these symptoms presented in all six young adult patients are often overlooked or neglected: postural hypotension with blurred vision and syncope, hyposalivation resulting with complete edentulosis, talocrular contractures with permanent walking difficulties and erectile dysfunction in male patients. Triple A syndrome is a progressive debilitating disorder which may seriously affect quality of life and even be life-threatening in patients with severe neurological impairment. CONCLUSION: Long-term follow-up of patients with triple A syndrome revealed a variety of the clinical features involving many systems. Progressive natural course of the disease may seriously affect quality of life and even be life-threatening in patients with severe neurological impairment.
48 schema:genre research_article
49 schema:inLanguage en
50 schema:isAccessibleForFree false
51 schema:isPartOf N322cd668f0464a01a415457447b610e9
52 Nbec667df28ae45c9811b6d4f0ca484b8
53 sg:journal.1017354
54 schema:name Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome
55 schema:pagination 1453-1459
56 schema:productId N03dec54033404f719b73153536d62ff1
57 N2e7d32db3b484dffba2b5dd3b8c829ae
58 N572302a9d9d14f29a9e2bd8a3eecb463
59 Nb170fa4adcbe4c6c8ddc4987b5341c54
60 Nc00931a6ae2f40de8d5d26d5615c8953
61 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026367373
62 https://doi.org/10.1007/s00431-012-1745-1
63 schema:sdDatePublished 2019-04-10T22:24
64 schema:sdLicense https://scigraph.springernature.com/explorer/license/
65 schema:sdPublisher N47112df832a4401abeffcf9d4ea5594a
66 schema:url http://link.springer.com/10.1007/s00431-012-1745-1
67 sgo:license sg:explorer/license/
68 sgo:sdDataset articles
69 rdf:type schema:ScholarlyArticle
70 N03dec54033404f719b73153536d62ff1 schema:name doi
71 schema:value 10.1007/s00431-012-1745-1
72 rdf:type schema:PropertyValue
73 N10b74a91c68e4e8e8cc98addfcd4882e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
74 schema:name Genotype
75 rdf:type schema:DefinedTerm
76 N160bfe77ad214dc69dde751dd3b39747 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
77 schema:name Adolescent
78 rdf:type schema:DefinedTerm
79 N178c5bb5930e41428992f941bb00871c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
80 schema:name Follow-Up Studies
81 rdf:type schema:DefinedTerm
82 N1f6a0ad5ec144d42b0dad79bcbe443ac schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
83 schema:name Male
84 rdf:type schema:DefinedTerm
85 N2e7d32db3b484dffba2b5dd3b8c829ae schema:name nlm_unique_id
86 schema:value 7603873
87 rdf:type schema:PropertyValue
88 N322cd668f0464a01a415457447b610e9 schema:volumeNumber 171
89 rdf:type schema:PublicationVolume
90 N330a6848338548029b46328e2ce52605 rdf:first sg:person.015126543554.77
91 rdf:rest N8b5dc99e7bc146a6960abe3c2b9302f7
92 N47112df832a4401abeffcf9d4ea5594a schema:name Springer Nature - SN SciGraph project
93 rdf:type schema:Organization
94 N572302a9d9d14f29a9e2bd8a3eecb463 schema:name pubmed_id
95 schema:value 22538409
96 rdf:type schema:PropertyValue
97 N5c040bb4c0d243f29c2ef5542e332109 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
98 schema:name Esophageal Achalasia
99 rdf:type schema:DefinedTerm
100 N5c59eb943150480e8dd8f251666716fe schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
101 schema:name Pedigree
102 rdf:type schema:DefinedTerm
103 N62909572be024adf8aae7a1dd5d683b6 rdf:first sg:person.012405143237.53
104 rdf:rest Na457ea312d494a779d3b52e04737daac
105 N72a1ef6248a244e6ad73e06db2d3c1c6 rdf:first sg:person.01100317652.60
106 rdf:rest N62909572be024adf8aae7a1dd5d683b6
107 N87a0877bfef9457d9d4c670591dee16f rdf:first sg:person.01331041244.29
108 rdf:rest N72a1ef6248a244e6ad73e06db2d3c1c6
109 N8b5dc99e7bc146a6960abe3c2b9302f7 rdf:first sg:person.0745321177.09
110 rdf:rest Nc709226c586042849ef7d5150c6b05b2
111 N8ebbc3199aa549c1b54262eb27bd5db2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
112 schema:name Child, Preschool
113 rdf:type schema:DefinedTerm
114 N9250adbc9bf84d1799c691e469948145 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
115 schema:name Adrenal Insufficiency
116 rdf:type schema:DefinedTerm
117 N9b4d5ded2da04b84a117a7384c1cc59c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
118 schema:name Female
119 rdf:type schema:DefinedTerm
120 N9f7652b66fdf4a4aba168aa9e1d02156 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
121 schema:name Genes, Recessive
122 rdf:type schema:DefinedTerm
123 Na457ea312d494a779d3b52e04737daac rdf:first sg:person.01222030375.14
124 rdf:rest rdf:nil
125 Nb170fa4adcbe4c6c8ddc4987b5341c54 schema:name readcube_id
126 schema:value 7d9ceff83aea33047ad361ed115474a816dece123f2a0c433fb35a512194240e
127 rdf:type schema:PropertyValue
128 Nbab495f38700482db184493ca03d5a78 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
129 schema:name Humans
130 rdf:type schema:DefinedTerm
131 Nbec667df28ae45c9811b6d4f0ca484b8 schema:issueNumber 10
132 rdf:type schema:PublicationIssue
133 Nbf1eb21eca2748508e2db02b054dcd21 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
134 schema:name Child
135 rdf:type schema:DefinedTerm
136 Nc00931a6ae2f40de8d5d26d5615c8953 schema:name dimensions_id
137 schema:value pub.1026367373
138 rdf:type schema:PropertyValue
139 Nc4a40035e13347d5acf09d93cc4a7e33 rdf:first sg:person.01357124540.05
140 rdf:rest N87a0877bfef9457d9d4c670591dee16f
141 Nc709226c586042849ef7d5150c6b05b2 rdf:first sg:person.0722431107.82
142 rdf:rest Nc4a40035e13347d5acf09d93cc4a7e33
143 Nd3272726b6424b6e9a6022d9ae5e13e4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
144 schema:name Adult
145 rdf:type schema:DefinedTerm
146 Ne653bd804bd441048c7b524228a83aa2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
147 schema:name Chromosomes, Human, Pair 12
148 rdf:type schema:DefinedTerm
149 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
150 schema:name Medical and Health Sciences
151 rdf:type schema:DefinedTerm
152 anzsrc-for:1103 schema:inDefinedTermSet anzsrc-for:
153 schema:name Clinical Sciences
154 rdf:type schema:DefinedTerm
155 sg:journal.1017354 schema:issn 0340-6199
156 1432-1076
157 schema:name European Journal of Pediatrics
158 rdf:type schema:Periodical
159 sg:person.01100317652.60 schema:affiliation https://www.grid.ac/institutes/grid.4808.4
160 schema:familyName Stanimirovic
161 schema:givenName Andrija
162 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01100317652.60
163 rdf:type schema:Person
164 sg:person.01222030375.14 schema:affiliation https://www.grid.ac/institutes/grid.4488.0
165 schema:familyName Huebner
166 schema:givenName Angela
167 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01222030375.14
168 rdf:type schema:Person
169 sg:person.012405143237.53 schema:affiliation https://www.grid.ac/institutes/grid.4488.0
170 schema:familyName Koehler
171 schema:givenName Katrin
172 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012405143237.53
173 rdf:type schema:Person
174 sg:person.01331041244.29 schema:affiliation https://www.grid.ac/institutes/grid.412688.1
175 schema:familyName Skegro
176 schema:givenName Mate
177 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01331041244.29
178 rdf:type schema:Person
179 sg:person.01357124540.05 schema:affiliation https://www.grid.ac/institutes/grid.412688.1
180 schema:familyName Stingl
181 schema:givenName Katarina
182 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01357124540.05
183 rdf:type schema:Person
184 sg:person.015126543554.77 schema:affiliation https://www.grid.ac/institutes/grid.412688.1
185 schema:familyName Dumic
186 schema:givenName Miroslav
187 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015126543554.77
188 rdf:type schema:Person
189 sg:person.0722431107.82 schema:affiliation https://www.grid.ac/institutes/grid.412688.1
190 schema:familyName Kusec
191 schema:givenName Vesna
192 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0722431107.82
193 rdf:type schema:Person
194 sg:person.0745321177.09 schema:affiliation https://www.grid.ac/institutes/grid.412688.1
195 schema:familyName Barišic
196 schema:givenName Nina
197 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0745321177.09
198 rdf:type schema:Person
199 sg:pub.10.1007/bf01958757 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050018367
200 https://doi.org/10.1007/bf01958757
201 rdf:type schema:CreativeWork
202 sg:pub.10.1007/bf01972967 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039220356
203 https://doi.org/10.1007/bf01972967
204 rdf:type schema:CreativeWork
205 sg:pub.10.1007/s00431-010-1222-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033302433
206 https://doi.org/10.1007/s00431-010-1222-7
207 rdf:type schema:CreativeWork
208 sg:pub.10.1007/s00431-010-1314-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037124543
209 https://doi.org/10.1007/s00431-010-1314-4
210 rdf:type schema:CreativeWork
211 sg:pub.10.1038/81642 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047876179
212 https://doi.org/10.1038/81642
213 rdf:type schema:CreativeWork
214 sg:pub.10.1038/ejhg.2008.132 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005975061
215 https://doi.org/10.1038/ejhg.2008.132
216 rdf:type schema:CreativeWork
217 https://doi.org/10.1016/j.bbrc.2009.09.080 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034175988
218 rdf:type schema:CreativeWork
219 https://doi.org/10.1016/j.ymgme.2007.08.116 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038927840
220 rdf:type schema:CreativeWork
221 https://doi.org/10.1034/j.1399-0004.2003.00070.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1015942462
222 rdf:type schema:CreativeWork
223 https://doi.org/10.1073/pnas.0505598103 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036041978
224 rdf:type schema:CreativeWork
225 https://doi.org/10.1073/pnas.211201898 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029356436
226 rdf:type schema:CreativeWork
227 https://doi.org/10.1080/08035250500538999 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017844213
228 rdf:type schema:CreativeWork
229 https://doi.org/10.1080/13816810802502962 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024042733
230 rdf:type schema:CreativeWork
231 https://doi.org/10.1080/17482960802259016 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019429169
232 rdf:type schema:CreativeWork
233 https://doi.org/10.1083/jcb.200206106 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045143206
234 rdf:type schema:CreativeWork
235 https://doi.org/10.1093/brain/awf270 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023754653
236 rdf:type schema:CreativeWork
237 https://doi.org/10.1093/hmg/10.3.283 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048033359
238 rdf:type schema:CreativeWork
239 https://doi.org/10.1111/j.1365-2265.1991.tb00279.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1041799934
240 rdf:type schema:CreativeWork
241 https://doi.org/10.1111/j.1399-0004.2009.01348.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1034288244
242 rdf:type schema:CreativeWork
243 https://doi.org/10.1136/adc.68.6.779 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018919314
244 rdf:type schema:CreativeWork
245 https://doi.org/10.1139/o05-198 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033743462
246 rdf:type schema:CreativeWork
247 https://doi.org/10.1159/000092003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047585134
248 rdf:type schema:CreativeWork
249 https://doi.org/10.1159/000161867 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028132863
250 rdf:type schema:CreativeWork
251 https://doi.org/10.1210/jc.80.7.2186 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064298331
252 rdf:type schema:CreativeWork
253 https://doi.org/10.1210/jcem.80.7.7608277 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064319624
254 rdf:type schema:CreativeWork
255 https://doi.org/10.1212/wnl.58.6.962 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064380707
256 rdf:type schema:CreativeWork
257 https://doi.org/10.1515/jpem.2006.19.5.765 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026001422
258 rdf:type schema:CreativeWork
259 https://www.grid.ac/institutes/grid.412688.1 schema:alternateName University Hospital Centre Zagreb
260 schema:name Department of Surgery, University Hospital Zagreb, Zagreb, Croatia
261 Division of Endocrinology, Department of Pediatrics, University Hospital Centre Zagreb, Kišpatićeva 12, 10000, Zagreb, Croatia
262 Division of Neurology, Department of Pediatrics, University Hospital Zagreb, Zagreb, Croatia
263 Tissue Typing Centre, Department of Laboratory Diagnostics, University Hospital Zagreb, Zagreb, Croatia
264 rdf:type schema:Organization
265 https://www.grid.ac/institutes/grid.4488.0 schema:alternateName TU Dresden
266 schema:name Children’s Hospital, Technical University Dresden, Dresden, Germany
267 rdf:type schema:Organization
268 https://www.grid.ac/institutes/grid.4808.4 schema:alternateName University of Zagreb
269 schema:name School of Health Studies, University of Zagreb, Zagreb, Croatia
270 rdf:type schema:Organization
 




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


...