Article: Identification of a HOXD13 mutation in a VACTERL patient

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TitleIdentification of a HOXD13 mutation in a VACTERL patient
AuthorsGarciaBarceló, MM1
Wong, KKY1 4
Lui, VCH1
Yuan, ZW3
So, MT1
Ngan, ESW1
Miao, XP1 2
Chung, PHY1
Khong, PL1
Tam, PKH1 4
KeywordsHOXD13
Sonic hedgehog
VACTERL
Issue Date2008
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html
CitationAmerican Journal Of Medical Genetics, Part A, 2008, v. 146 n. 24, p. 3181-3185 [How to Cite?]
DOI: http://dx.doi.org/10.1002/ajmg.a.32426
AbstractVACTERL acronym is assigned to a non-random association of malformations in humans with poorly known etiology. It is comprised of vertebral defects (V), anal atresia (A), cardiac anomaly (C), tracheoesophageal fistula with esophageal atresia (TE), renal dysplasia (R) and limb lesions (L). Here, we report on, for the first time, a female patient with VACTERL association with a 21 base-pair deletion in the exon 1 triplet repeats of HOXD13, a sonic hedgehog (SHH) downstream target. Our data provide the first piece of clinical evidence of the implication of the SHH pathway in VACTERL. Moreover, HOXD13 may not only be implicated in limb malformations but also in the development of gut and genitourinary structures, as predicted from the mouse models. © 2008 Wiley-Liss, Inc.
ISSN1552-4825
2011 Impact Factor: 2.391
2011 SCImago Journal Rankings: 0.261
DOIhttp://dx.doi.org/10.1002/ajmg.a.32426
ISI Accession Number IDWOS:000261645600011
Funding AgencyGrant Number
Hong Kong Research Grants CouncilHKU 7509/05M
HKU 7756/08M
Funding Information:

We extend Our gratitude to all subjects who participated in the study. This work was supported by a research grant from the Hong Kong Research Grants Council (HKU 7509/05M) to MGB and (HKU 7756/08M) to PKT.

ReferencesReferences in Scopus
GrantsStudy of the molecular basis of anorectal malformations
Study of the molecular basis of anorectal malformations
DC Field
Value
dc.contributor.authorGarciaBarceló, MM
dc.contributor.authorWong, KKY
dc.contributor.authorLui, VCH
dc.contributor.authorYuan, ZW
dc.contributor.authorSo, MT
dc.contributor.authorNgan, ESW
dc.contributor.authorMiao, XP
dc.contributor.authorChung, PHY
dc.contributor.authorKhong, PL
dc.contributor.authorTam, PKH
dc.date.accessioned2010-09-17T10:36:29Z
dc.date.available2010-09-17T10:36:29Z
dc.date.issued2008
dc.description.abstractVACTERL acronym is assigned to a non-random association of malformations in humans with poorly known etiology. It is comprised of vertebral defects (V), anal atresia (A), cardiac anomaly (C), tracheoesophageal fistula with esophageal atresia (TE), renal dysplasia (R) and limb lesions (L). Here, we report on, for the first time, a female patient with VACTERL association with a 21 base-pair deletion in the exon 1 triplet repeats of HOXD13, a sonic hedgehog (SHH) downstream target. Our data provide the first piece of clinical evidence of the implication of the SHH pathway in VACTERL. Moreover, HOXD13 may not only be implicated in limb malformations but also in the development of gut and genitourinary structures, as predicted from the mouse models. © 2008 Wiley-Liss, Inc.
dc.description.grantStudy of the molecular basis of anorectal malformations
dc.description.grantStudy of the molecular basis of anorectal malformations
dc.description.grantcode28063
dc.description.grantcode29611
dc.description.naturelink_to_subscribed_fulltext
dc.identifier.citationAmerican Journal Of Medical Genetics, Part A, 2008, v. 146 n. 24, p. 3181-3185 [How to Cite?]
DOI: http://dx.doi.org/10.1002/ajmg.a.32426
dc.identifier.doihttp://dx.doi.org/10.1002/ajmg.a.32426
dc.identifier.eissn1552-4833
dc.identifier.epage3185
dc.identifier.isiWOS:000261645600011
Funding AgencyGrant Number
Hong Kong Research Grants CouncilHKU 7509/05M
HKU 7756/08M
Funding Information:

We extend Our gratitude to all subjects who participated in the study. This work was supported by a research grant from the Hong Kong Research Grants Council (HKU 7509/05M) to MGB and (HKU 7756/08M) to PKT.

dc.identifier.issn1552-4825
2011 Impact Factor: 2.391
2011 SCImago Journal Rankings: 0.261
dc.identifier.issue24
dc.identifier.pmid19006232
dc.identifier.scopuseid_2-s2.0-57149100183
dc.identifier.spage3181
dc.identifier.urihttp://hdl.handle.net/10722/92114
dc.identifier.volume146
dc.languageeng
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html
dc.publisher.placeUnited States
dc.relation.ispartofAmerican Journal of Medical Genetics, Part A
dc.relation.referencesReferences in Scopus
dc.subject.meshAbnormalities, Multiple - genetics - radiography
dc.subject.meshAdolescent
dc.subject.meshAmino Acid Sequence
dc.subject.meshAnus, Imperforate - complications - genetics
dc.subject.meshBase Sequence
dc.subject.meshDNA Mutational Analysis
dc.subject.meshEsophageal Atresia - complications - genetics
dc.subject.meshFemale
dc.subject.meshHeart Defects, Congenital - complications - genetics
dc.subject.meshHomeodomain Proteins - genetics
dc.subject.meshHumans
dc.subject.meshLimb Deformities, Congenital - complications - genetics - radiography
dc.subject.meshMolecular Sequence Data
dc.subject.meshMutation - genetics
dc.subject.meshSyndrome
dc.subject.meshTracheoesophageal Fistula - complications - genetics
dc.subject.meshTranscription Factors - genetics
dc.subjectHOXD13
dc.subjectSonic hedgehog
dc.subjectVACTERL
dc.titleIdentification of a HOXD13 mutation in a VACTERL patient
dc.typeArticle
Author Affiliations
  1. The University of Hong Kong Li Ka Shing Faculty of Medicine
  2. Shenzhen Children's Hospital
  3. China Medical University Shenyang
  4. The University of Hong Kong