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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
2012 Impact Factor: 2.304
2012 SCImago Journal Rankings: 1.026
 
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
 
DC FieldValue
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.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
2012 Impact Factor: 2.304
2012 SCImago Journal Rankings: 1.026
 
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.projectStudy of the molecular basis of anorectal malformations
 
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
 
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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