Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2015-10

AUTHORS

Jin Ho Chong, Saumya Shekhar Jamuar, Christina Ong, Koh Cheng Thoon, Ee Shien Tan, Angeline Lai, Mark Koh Jean Aan, Wilson Lek Wen Tan, Roger Foo, Ene Choo Tan, Yu-Lung Lau, Woei Kang Liew

ABSTRACT

Tricho-hepato-enteric syndrome (THE-S) is characterized by severe infantile diarrhea, failure to thrive, dysmorphism, woolly hair, and immune or hepatic dysfunction. We report two cases of East Asian descent with THE-S who had remained undiagnosed despite extensive investigations but were diagnosed on whole exome sequencing (WES). Both cases presented with chronic diarrhea, failure to thrive, and recurrent infections. Case 1 had posteriorly rotated low set ears, mild retrognathia, and fine curly hypopigmented hair. She was managed with prolonged total parenteral nutrition and intravenous immunoglobulin infusions. Case 2 had sparse coarse brown hair as well as multiple lentigines and café-au-lait macules. She was managed with amino acid-based formula. For both cases, routine investigations were inconclusive. WES in both cases showed biallelic truncating mutations in TTC37 (c.3507T>G;p.Y1169X and c.3601C>T;p.R1201X in case 1 and c.3507T>G;p.Y1169X and c.154G>T;p.E52X in case 2), suggesting a diagnosis of THE-S. CONCLUSION: We present novel mutations in the TTC37 gene in two individuals of East Asian descent with the rare THE-S, detected by WES. Future identification of patients with THE-S and establishing genotype-phenotype correlations will aid in counseling the patients and their families. WHAT IS KNOWN: • Tricho-Hepato-Enteric syndrome (THE-S) is characterized by severe infantile diarrhea, failure to thrive, dysmorphism, woolly hair, and immune or hepatic dysfunction. • Complex patients with diagnostic dilemmas undergo extensive investigations. What is New: • This is a report of novel mutations in TTC37 in individuals of East Asian descent. • Whole exome sequencing (WES) can be useful in certain complex cases with diagnostic dilemmas. More... »

PAGES

1405-1411

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00431-015-2563-z

DOI

http://dx.doi.org/10.1007/s00431-015-2563-z

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1047030896

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25976726


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/2008/1107", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Immunology", 
        "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": "Carrier Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child, Preschool", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "DNA", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "DNA Mutational Analysis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Diarrhea, Infantile", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Facies", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Fetal Growth Retardation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Testing", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Hair Diseases", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "KK Women's and Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.414963.d", 
          "name": [
            "Department of Paediatrics, KK Women\u2019s and Children\u2019s Hospital, 100 Bukit Timah Rd, 229899, Singapore, Singapore"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Chong", 
        "givenName": "Jin Ho", 
        "id": "sg:person.01033255760.06", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01033255760.06"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "KK Women's and Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.414963.d", 
          "name": [
            "Department of Paediatrics, KK Women\u2019s and Children\u2019s Hospital, 100 Bukit Timah Rd, 229899, Singapore, Singapore"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Jamuar", 
        "givenName": "Saumya Shekhar", 
        "id": "sg:person.0705351175.53", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0705351175.53"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "KK Women's and Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.414963.d", 
          "name": [
            "Department of Paediatrics, KK Women\u2019s and Children\u2019s Hospital, 100 Bukit Timah Rd, 229899, Singapore, Singapore"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ong", 
        "givenName": "Christina", 
        "id": "sg:person.01267702627.22", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01267702627.22"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "KK Women's and Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.414963.d", 
          "name": [
            "Department of Paediatrics, KK Women\u2019s and Children\u2019s Hospital, 100 Bukit Timah Rd, 229899, Singapore, Singapore"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Thoon", 
        "givenName": "Koh Cheng", 
        "id": "sg:person.01110674605.17", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01110674605.17"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "KK Women's and Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.414963.d", 
          "name": [
            "Department of Paediatrics, KK Women\u2019s and Children\u2019s Hospital, 100 Bukit Timah Rd, 229899, Singapore, Singapore"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tan", 
        "givenName": "Ee Shien", 
        "id": "sg:person.0632654064.14", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0632654064.14"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "KK Women's and Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.414963.d", 
          "name": [
            "Department of Paediatrics, KK Women\u2019s and Children\u2019s Hospital, 100 Bukit Timah Rd, 229899, Singapore, Singapore"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lai", 
        "givenName": "Angeline", 
        "id": "sg:person.011031070402.46", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011031070402.46"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "KK Women's and Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.414963.d", 
          "name": [
            "Department of Dermatology, KK Women\u2019s and Children\u2019s Hospital, Singapore, Singapore"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Aan", 
        "givenName": "Mark Koh Jean", 
        "id": "sg:person.0626455020.37", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0626455020.37"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Genome Institute of Singapore", 
          "id": "https://www.grid.ac/institutes/grid.418377.e", 
          "name": [
            "Genome Institute of Singapore, Singapore, Singapore"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tan", 
        "givenName": "Wilson Lek Wen", 
        "id": "sg:person.01206764031.11", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01206764031.11"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Genome Institute of Singapore", 
          "id": "https://www.grid.ac/institutes/grid.418377.e", 
          "name": [
            "Genome Institute of Singapore, Singapore, Singapore"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Foo", 
        "givenName": "Roger", 
        "id": "sg:person.0671406042.13", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0671406042.13"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "KK Women's and Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.414963.d", 
          "name": [
            "KK Research Centre, KK Women\u2019s and Children\u2019s Hospital, Singapore, Singapore"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tan", 
        "givenName": "Ene Choo", 
        "id": "sg:person.01160256622.32", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01160256622.32"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, Pokfulam, Hong Kong, SAR, China"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lau", 
        "givenName": "Yu-Lung", 
        "id": "sg:person.0716701631.65", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0716701631.65"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "KK Women's and Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.414963.d", 
          "name": [
            "Department of Paediatric Subspecialties, KK Women\u2019s and Children\u2019s Hospital, Singapore, Singapore"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Liew", 
        "givenName": "Woei Kang", 
        "id": "sg:person.01167276225.76", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01167276225.76"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1038/nature11632", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000661742", 
          "https://doi.org/10.1038/nature11632"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00431-008-0861-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002246843", 
          "https://doi.org/10.1007/s00431-008-0861-4"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00431-008-0861-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002246843", 
          "https://doi.org/10.1007/s00431-008-0861-4"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/29.1.308", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005817660"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.806", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010244476", 
          "https://doi.org/10.1038/ng.806"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3389/fped.2015.00002", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014894166"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1053/j.gastro.2014.07.023", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015344302"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1750-1172-8-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016074064", 
          "https://doi.org/10.1186/1750-1172-8-5"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/mpg.0000000000000627", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018478670"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/mpg.0000000000000627", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018478670"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/gkq603", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020792304"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/cge.12494", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023898827"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000339896", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026665038"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/bioinformatics/btp324", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038266369"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejmra1312543", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039474784"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmedgenet-2014-102624", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040614845"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nmeth.3046", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041900698", 
          "https://doi.org/10.1038/nmeth.3046"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/archdischild-2012-302881", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045442945"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/archdischild-2013-304016", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047912755"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejmoa1306555", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049134320"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2015-10", 
    "datePublishedReg": "2015-10-01", 
    "description": "Tricho-hepato-enteric syndrome (THE-S) is characterized by severe infantile diarrhea, failure to thrive, dysmorphism, woolly hair, and immune or hepatic dysfunction. We report two cases of East Asian descent with THE-S who had remained undiagnosed despite extensive investigations but were diagnosed on whole exome sequencing (WES). Both cases presented with chronic diarrhea, failure to thrive, and recurrent infections. Case 1 had posteriorly rotated low set ears, mild retrognathia, and fine curly hypopigmented hair. She was managed with prolonged total parenteral nutrition and intravenous immunoglobulin infusions. Case 2 had sparse coarse brown hair as well as multiple lentigines and caf\u00e9-au-lait macules. She was managed with amino acid-based formula. For both cases, routine investigations were inconclusive. WES in both cases showed biallelic truncating mutations in TTC37 (c.3507T>G;p.Y1169X and c.3601C>T;p.R1201X in case 1 and c.3507T>G;p.Y1169X and c.154G>T;p.E52X in case 2), suggesting a diagnosis of THE-S.\nCONCLUSION: We present novel mutations in the TTC37 gene in two individuals of East Asian descent with the rare THE-S, detected by WES. Future identification of patients with THE-S and establishing genotype-phenotype correlations will aid in counseling the patients and their families.\nWHAT IS KNOWN: \u2022 Tricho-Hepato-Enteric syndrome (THE-S) is characterized by severe infantile diarrhea, failure to thrive, dysmorphism, woolly hair, and immune or hepatic dysfunction. \u2022 Complex patients with diagnostic dilemmas undergo extensive investigations. What is New: \u2022 This is a report of novel mutations in TTC37 in individuals of East Asian descent. \u2022 Whole exome sequencing (WES) can be useful in certain complex cases with diagnostic dilemmas.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1007/s00431-015-2563-z", 
    "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": "174"
      }
    ], 
    "name": "Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature", 
    "pagination": "1405-1411", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "e00a37636211c77afc6cd7bb9a06f68e86dfb74fcde83088a5431e8b2c8ebbad"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "25976726"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "7603873"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s00431-015-2563-z"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1047030896"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s00431-015-2563-z", 
      "https://app.dimensions.ai/details/publication/pub.1047030896"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T14:04", 
    "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_8660_00000491.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://link.springer.com/10.1007/s00431-015-2563-z"
  }
]
 

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/s00431-015-2563-z'

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/s00431-015-2563-z'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s00431-015-2563-z'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s00431-015-2563-z'


 

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

261 TRIPLES      21 PREDICATES      59 URIs      33 LITERALS      21 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s00431-015-2563-z schema:about N1c0342b062ac41868c6f604d7c6c0588
2 N1d2619ab15c04d53b969e2e5186f4344
3 N28917785e27f45e99f68f3ef3bbe941c
4 N47b143c60a20432dab002fdeae0669d6
5 N7baedb03df3c4239a9925412da1ef323
6 N882241d03e1b42118cb96cad7ca83d4f
7 N9292ef2a81d74e8eb2cc37b745c84155
8 Nbc1794f000cb4a37b3dbf9b28b869f7f
9 Nbe57110dd53f43b88d4acc17e1185136
10 Ne6594607dbb34867b14bbc8f454a32cf
11 Nfd16e2abb40146ef9a00f256fd42d419
12 Nfffb097691594ead9adc020b2c982279
13 anzsrc-for:11
14 anzsrc-for:1107
15 schema:author N8f1d95f9d058452cafcfc2120366188c
16 schema:citation sg:pub.10.1007/s00431-008-0861-4
17 sg:pub.10.1038/nature11632
18 sg:pub.10.1038/ng.806
19 sg:pub.10.1038/nmeth.3046
20 sg:pub.10.1186/1750-1172-8-5
21 https://doi.org/10.1053/j.gastro.2014.07.023
22 https://doi.org/10.1056/nejmoa1306555
23 https://doi.org/10.1056/nejmra1312543
24 https://doi.org/10.1093/bioinformatics/btp324
25 https://doi.org/10.1093/nar/29.1.308
26 https://doi.org/10.1093/nar/gkq603
27 https://doi.org/10.1097/mpg.0000000000000627
28 https://doi.org/10.1111/cge.12494
29 https://doi.org/10.1136/archdischild-2012-302881
30 https://doi.org/10.1136/archdischild-2013-304016
31 https://doi.org/10.1136/jmedgenet-2014-102624
32 https://doi.org/10.1159/000339896
33 https://doi.org/10.3389/fped.2015.00002
34 schema:datePublished 2015-10
35 schema:datePublishedReg 2015-10-01
36 schema:description Tricho-hepato-enteric syndrome (THE-S) is characterized by severe infantile diarrhea, failure to thrive, dysmorphism, woolly hair, and immune or hepatic dysfunction. We report two cases of East Asian descent with THE-S who had remained undiagnosed despite extensive investigations but were diagnosed on whole exome sequencing (WES). Both cases presented with chronic diarrhea, failure to thrive, and recurrent infections. Case 1 had posteriorly rotated low set ears, mild retrognathia, and fine curly hypopigmented hair. She was managed with prolonged total parenteral nutrition and intravenous immunoglobulin infusions. Case 2 had sparse coarse brown hair as well as multiple lentigines and café-au-lait macules. She was managed with amino acid-based formula. For both cases, routine investigations were inconclusive. WES in both cases showed biallelic truncating mutations in TTC37 (c.3507T>G;p.Y1169X and c.3601C>T;p.R1201X in case 1 and c.3507T>G;p.Y1169X and c.154G>T;p.E52X in case 2), suggesting a diagnosis of THE-S. CONCLUSION: We present novel mutations in the TTC37 gene in two individuals of East Asian descent with the rare THE-S, detected by WES. Future identification of patients with THE-S and establishing genotype-phenotype correlations will aid in counseling the patients and their families. WHAT IS KNOWN: • Tricho-Hepato-Enteric syndrome (THE-S) is characterized by severe infantile diarrhea, failure to thrive, dysmorphism, woolly hair, and immune or hepatic dysfunction. • Complex patients with diagnostic dilemmas undergo extensive investigations. What is New: • This is a report of novel mutations in TTC37 in individuals of East Asian descent. • Whole exome sequencing (WES) can be useful in certain complex cases with diagnostic dilemmas.
37 schema:genre research_article
38 schema:inLanguage en
39 schema:isAccessibleForFree false
40 schema:isPartOf N0a2861ef20a1453a83ac2bb64f4cc8dd
41 N194f333b5c354c7db32e4a166c07fcac
42 sg:journal.1017354
43 schema:name Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature
44 schema:pagination 1405-1411
45 schema:productId N284f09b94c984bc1a8054f16ee2e093b
46 N9e171a800f824952852b54e28b045ba3
47 N9e52ef4dd64b4e8eb986cbef85b0817f
48 Nca062262f0a449b7a8071a871171f51b
49 Ne850b0e4e9b64a93886966161024f898
50 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047030896
51 https://doi.org/10.1007/s00431-015-2563-z
52 schema:sdDatePublished 2019-04-10T14:04
53 schema:sdLicense https://scigraph.springernature.com/explorer/license/
54 schema:sdPublisher Nb2da0094109b4f66b7ba84eb0da5ca98
55 schema:url http://link.springer.com/10.1007/s00431-015-2563-z
56 sgo:license sg:explorer/license/
57 sgo:sdDataset articles
58 rdf:type schema:ScholarlyArticle
59 N0a2861ef20a1453a83ac2bb64f4cc8dd schema:issueNumber 10
60 rdf:type schema:PublicationIssue
61 N194f333b5c354c7db32e4a166c07fcac schema:volumeNumber 174
62 rdf:type schema:PublicationVolume
63 N1c0342b062ac41868c6f604d7c6c0588 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
64 schema:name Humans
65 rdf:type schema:DefinedTerm
66 N1d2619ab15c04d53b969e2e5186f4344 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
67 schema:name Hair Diseases
68 rdf:type schema:DefinedTerm
69 N284f09b94c984bc1a8054f16ee2e093b schema:name nlm_unique_id
70 schema:value 7603873
71 rdf:type schema:PropertyValue
72 N28917785e27f45e99f68f3ef3bbe941c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
73 schema:name DNA
74 rdf:type schema:DefinedTerm
75 N379eab4bbe9947d6ac6e1a020a551360 rdf:first sg:person.0632654064.14
76 rdf:rest Nd085723abaa94aa3854beb76e7b1be11
77 N47b143c60a20432dab002fdeae0669d6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
78 schema:name Genetic Testing
79 rdf:type schema:DefinedTerm
80 N49f227a06958489da6b0035cfe5edf45 rdf:first sg:person.0716701631.65
81 rdf:rest Ncfd7d888c6a2474187d90cad21406b31
82 N62e284e6523a4e95ad86dcab9bda883c rdf:first sg:person.0626455020.37
83 rdf:rest N9beaf5be90ed412db4992216ce912fb6
84 N7baedb03df3c4239a9925412da1ef323 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
85 schema:name DNA Mutational Analysis
86 rdf:type schema:DefinedTerm
87 N7e6ca760017b47809e7c93a88a5c999b rdf:first sg:person.01160256622.32
88 rdf:rest N49f227a06958489da6b0035cfe5edf45
89 N882241d03e1b42118cb96cad7ca83d4f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
90 schema:name Carrier Proteins
91 rdf:type schema:DefinedTerm
92 N887b71e0167a46acb72a14b79c0ae0b8 rdf:first sg:person.0705351175.53
93 rdf:rest N95bf489683b04558aae8d2680c6289fb
94 N897164c3e4f24bac806ff380e85d0fa7 rdf:first sg:person.01110674605.17
95 rdf:rest N379eab4bbe9947d6ac6e1a020a551360
96 N8f1d95f9d058452cafcfc2120366188c rdf:first sg:person.01033255760.06
97 rdf:rest N887b71e0167a46acb72a14b79c0ae0b8
98 N9292ef2a81d74e8eb2cc37b745c84155 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
99 schema:name Facies
100 rdf:type schema:DefinedTerm
101 N95bf489683b04558aae8d2680c6289fb rdf:first sg:person.01267702627.22
102 rdf:rest N897164c3e4f24bac806ff380e85d0fa7
103 N9beaf5be90ed412db4992216ce912fb6 rdf:first sg:person.01206764031.11
104 rdf:rest Ncf12722f826c42679398d6c84d5e3060
105 N9e171a800f824952852b54e28b045ba3 schema:name dimensions_id
106 schema:value pub.1047030896
107 rdf:type schema:PropertyValue
108 N9e52ef4dd64b4e8eb986cbef85b0817f schema:name pubmed_id
109 schema:value 25976726
110 rdf:type schema:PropertyValue
111 Nb2da0094109b4f66b7ba84eb0da5ca98 schema:name Springer Nature - SN SciGraph project
112 rdf:type schema:Organization
113 Nbc1794f000cb4a37b3dbf9b28b869f7f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
114 schema:name Mutation
115 rdf:type schema:DefinedTerm
116 Nbe57110dd53f43b88d4acc17e1185136 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
117 schema:name Female
118 rdf:type schema:DefinedTerm
119 Nca062262f0a449b7a8071a871171f51b schema:name doi
120 schema:value 10.1007/s00431-015-2563-z
121 rdf:type schema:PropertyValue
122 Ncf12722f826c42679398d6c84d5e3060 rdf:first sg:person.0671406042.13
123 rdf:rest N7e6ca760017b47809e7c93a88a5c999b
124 Ncfd7d888c6a2474187d90cad21406b31 rdf:first sg:person.01167276225.76
125 rdf:rest rdf:nil
126 Nd085723abaa94aa3854beb76e7b1be11 rdf:first sg:person.011031070402.46
127 rdf:rest N62e284e6523a4e95ad86dcab9bda883c
128 Ne6594607dbb34867b14bbc8f454a32cf schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
129 schema:name Diarrhea, Infantile
130 rdf:type schema:DefinedTerm
131 Ne850b0e4e9b64a93886966161024f898 schema:name readcube_id
132 schema:value e00a37636211c77afc6cd7bb9a06f68e86dfb74fcde83088a5431e8b2c8ebbad
133 rdf:type schema:PropertyValue
134 Nf7651836873a4038a3c6a012df75387f schema:name Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, Pokfulam, Hong Kong, SAR, China
135 rdf:type schema:Organization
136 Nfd16e2abb40146ef9a00f256fd42d419 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
137 schema:name Fetal Growth Retardation
138 rdf:type schema:DefinedTerm
139 Nfffb097691594ead9adc020b2c982279 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
140 schema:name Child, Preschool
141 rdf:type schema:DefinedTerm
142 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
143 schema:name Medical and Health Sciences
144 rdf:type schema:DefinedTerm
145 anzsrc-for:1107 schema:inDefinedTermSet anzsrc-for:
146 schema:name Immunology
147 rdf:type schema:DefinedTerm
148 sg:journal.1017354 schema:issn 0340-6199
149 1432-1076
150 schema:name European Journal of Pediatrics
151 rdf:type schema:Periodical
152 sg:person.01033255760.06 schema:affiliation https://www.grid.ac/institutes/grid.414963.d
153 schema:familyName Chong
154 schema:givenName Jin Ho
155 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01033255760.06
156 rdf:type schema:Person
157 sg:person.011031070402.46 schema:affiliation https://www.grid.ac/institutes/grid.414963.d
158 schema:familyName Lai
159 schema:givenName Angeline
160 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011031070402.46
161 rdf:type schema:Person
162 sg:person.01110674605.17 schema:affiliation https://www.grid.ac/institutes/grid.414963.d
163 schema:familyName Thoon
164 schema:givenName Koh Cheng
165 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01110674605.17
166 rdf:type schema:Person
167 sg:person.01160256622.32 schema:affiliation https://www.grid.ac/institutes/grid.414963.d
168 schema:familyName Tan
169 schema:givenName Ene Choo
170 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01160256622.32
171 rdf:type schema:Person
172 sg:person.01167276225.76 schema:affiliation https://www.grid.ac/institutes/grid.414963.d
173 schema:familyName Liew
174 schema:givenName Woei Kang
175 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01167276225.76
176 rdf:type schema:Person
177 sg:person.01206764031.11 schema:affiliation https://www.grid.ac/institutes/grid.418377.e
178 schema:familyName Tan
179 schema:givenName Wilson Lek Wen
180 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01206764031.11
181 rdf:type schema:Person
182 sg:person.01267702627.22 schema:affiliation https://www.grid.ac/institutes/grid.414963.d
183 schema:familyName Ong
184 schema:givenName Christina
185 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01267702627.22
186 rdf:type schema:Person
187 sg:person.0626455020.37 schema:affiliation https://www.grid.ac/institutes/grid.414963.d
188 schema:familyName Aan
189 schema:givenName Mark Koh Jean
190 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0626455020.37
191 rdf:type schema:Person
192 sg:person.0632654064.14 schema:affiliation https://www.grid.ac/institutes/grid.414963.d
193 schema:familyName Tan
194 schema:givenName Ee Shien
195 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0632654064.14
196 rdf:type schema:Person
197 sg:person.0671406042.13 schema:affiliation https://www.grid.ac/institutes/grid.418377.e
198 schema:familyName Foo
199 schema:givenName Roger
200 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0671406042.13
201 rdf:type schema:Person
202 sg:person.0705351175.53 schema:affiliation https://www.grid.ac/institutes/grid.414963.d
203 schema:familyName Jamuar
204 schema:givenName Saumya Shekhar
205 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0705351175.53
206 rdf:type schema:Person
207 sg:person.0716701631.65 schema:affiliation Nf7651836873a4038a3c6a012df75387f
208 schema:familyName Lau
209 schema:givenName Yu-Lung
210 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0716701631.65
211 rdf:type schema:Person
212 sg:pub.10.1007/s00431-008-0861-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002246843
213 https://doi.org/10.1007/s00431-008-0861-4
214 rdf:type schema:CreativeWork
215 sg:pub.10.1038/nature11632 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000661742
216 https://doi.org/10.1038/nature11632
217 rdf:type schema:CreativeWork
218 sg:pub.10.1038/ng.806 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010244476
219 https://doi.org/10.1038/ng.806
220 rdf:type schema:CreativeWork
221 sg:pub.10.1038/nmeth.3046 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041900698
222 https://doi.org/10.1038/nmeth.3046
223 rdf:type schema:CreativeWork
224 sg:pub.10.1186/1750-1172-8-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016074064
225 https://doi.org/10.1186/1750-1172-8-5
226 rdf:type schema:CreativeWork
227 https://doi.org/10.1053/j.gastro.2014.07.023 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015344302
228 rdf:type schema:CreativeWork
229 https://doi.org/10.1056/nejmoa1306555 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049134320
230 rdf:type schema:CreativeWork
231 https://doi.org/10.1056/nejmra1312543 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039474784
232 rdf:type schema:CreativeWork
233 https://doi.org/10.1093/bioinformatics/btp324 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038266369
234 rdf:type schema:CreativeWork
235 https://doi.org/10.1093/nar/29.1.308 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005817660
236 rdf:type schema:CreativeWork
237 https://doi.org/10.1093/nar/gkq603 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020792304
238 rdf:type schema:CreativeWork
239 https://doi.org/10.1097/mpg.0000000000000627 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018478670
240 rdf:type schema:CreativeWork
241 https://doi.org/10.1111/cge.12494 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023898827
242 rdf:type schema:CreativeWork
243 https://doi.org/10.1136/archdischild-2012-302881 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045442945
244 rdf:type schema:CreativeWork
245 https://doi.org/10.1136/archdischild-2013-304016 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047912755
246 rdf:type schema:CreativeWork
247 https://doi.org/10.1136/jmedgenet-2014-102624 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040614845
248 rdf:type schema:CreativeWork
249 https://doi.org/10.1159/000339896 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026665038
250 rdf:type schema:CreativeWork
251 https://doi.org/10.3389/fped.2015.00002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014894166
252 rdf:type schema:CreativeWork
253 https://www.grid.ac/institutes/grid.414963.d schema:alternateName KK Women's and Children's Hospital
254 schema:name Department of Dermatology, KK Women’s and Children’s Hospital, Singapore, Singapore
255 Department of Paediatric Subspecialties, KK Women’s and Children’s Hospital, Singapore, Singapore
256 Department of Paediatrics, KK Women’s and Children’s Hospital, 100 Bukit Timah Rd, 229899, Singapore, Singapore
257 KK Research Centre, KK Women’s and Children’s Hospital, Singapore, Singapore
258 rdf:type schema:Organization
259 https://www.grid.ac/institutes/grid.418377.e schema:alternateName Genome Institute of Singapore
260 schema:name Genome Institute of Singapore, Singapore, Singapore
261 rdf:type schema:Organization
 




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


...