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Article: Identification of a HOXD13 mutation in a VACTERL patient

TitleIdentification of a HOXD13 mutation in a VACTERL patient
Authors
GarciaBarceló, MMWong, KKYLui, VCHYuan, ZWSo, MTNgan, ESWMiao, XPChung, HYKhong, PLTam, PKH
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
Citation
American 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.
Persistent Identifierhttp://hdl.handle.net/10722/92114
ISSN
1552-4825
2023 Impact Factor: 1.7
2023 SCImago Journal Rankings: 0.718
ISI Accession Number ID
WOS: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.

References
References in Scopus
Grants
Study of the molecular basis of anorectal malformations

 

DC FieldValueLanguage
dc.contributor.authorGarciaBarceló, MMen_HK
dc.contributor.authorWong, KKYen_HK
dc.contributor.authorLui, VCHen_HK
dc.contributor.authorYuan, ZWen_HK
dc.contributor.authorSo, MTen_HK
dc.contributor.authorNgan, ESWen_HK
dc.contributor.authorMiao, XPen_HK
dc.contributor.authorChung, HYen_HK
dc.contributor.authorKhong, PLen_HK
dc.contributor.authorTam, PKHen_HK
dc.date.accessioned2010-09-17T10:36:29Z-
dc.date.available2010-09-17T10:36:29Z-
dc.date.issued2008en_HK
dc.identifier.citationAmerican Journal Of Medical Genetics, Part A, 2008, v. 146 n. 24, p. 3181-3185en_HK
dc.identifier.issn1552-4825en_HK
dc.identifier.urihttp://hdl.handle.net/10722/92114-
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.en_HK
dc.languageengen_HK
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.htmlen_HK
dc.relation.ispartofAmerican Journal of Medical Genetics, Part Aen_HK
dc.subjectHOXD13en_HK
dc.subjectSonic hedgehogen_HK
dc.subjectVACTERLen_HK
dc.subject.meshAbnormalities, Multiple - genetics - radiographyen_HK
dc.subject.meshAdolescenten_HK
dc.subject.meshAmino Acid Sequenceen_HK
dc.subject.meshAnus, Imperforate - complications - geneticsen_HK
dc.subject.meshBase Sequenceen_HK
dc.subject.meshDNA Mutational Analysisen_HK
dc.subject.meshEsophageal Atresia - complications - geneticsen_HK
dc.subject.meshFemaleen_HK
dc.subject.meshHeart Defects, Congenital - complications - geneticsen_HK
dc.subject.meshHomeodomain Proteins - geneticsen_HK
dc.subject.meshHumansen_HK
dc.subject.meshLimb Deformities, Congenital - complications - genetics - radiographyen_HK
dc.subject.meshMolecular Sequence Dataen_HK
dc.subject.meshMutation - geneticsen_HK
dc.subject.meshSyndromeen_HK
dc.subject.meshTracheoesophageal Fistula - complications - geneticsen_HK
dc.subject.meshTranscription Factors - geneticsen_HK
dc.titleIdentification of a HOXD13 mutation in a VACTERL patienten_HK
dc.typeArticleen_HK
dc.identifier.emailGarciaBarceló, MM: mmgarcia@hkucc.hku.hken_HK
dc.identifier.emailWong, KKY: kkywong@hkucc.hku.hken_HK
dc.identifier.emailLui, VCH: vchlui@hkucc.hku.hken_HK
dc.identifier.emailNgan, ESW: engan@hkucc.hku.hken_HK
dc.identifier.emailKhong, PL: plkhong@hkucc.hku.hken_HK
dc.identifier.emailTam, PKH: paultam@hkucc.hku.hken_HK
dc.identifier.authorityGarciaBarceló, MM=rp00445en_HK
dc.identifier.authorityWong, KKY=rp01392en_HK
dc.identifier.authorityLui, VCH=rp00363en_HK
dc.identifier.authorityNgan, ESW=rp00422en_HK
dc.identifier.authorityKhong, PL=rp00467en_HK
dc.identifier.authorityTam, PKH=rp00060en_HK
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1002/ajmg.a.32426en_HK
dc.identifier.pmid19006232en_HK
dc.identifier.scopuseid_2-s2.0-57149100183en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-57149100183&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume146en_HK
dc.identifier.issue24en_HK
dc.identifier.spage3181en_HK
dc.identifier.epage3185en_HK
dc.identifier.eissn1552-4833-
dc.identifier.isiWOS:000261645600011-
dc.publisher.placeUnited Statesen_HK
dc.relation.projectStudy of the molecular basis of anorectal malformations-
dc.identifier.scopusauthoridGarciaBarceló, MM=6701767303en_HK
dc.identifier.scopusauthoridWong, KKY=24438686400en_HK
dc.identifier.scopusauthoridLui, VCH=7004231344en_HK
dc.identifier.scopusauthoridYuan, ZW=8672008500en_HK
dc.identifier.scopusauthoridSo, MT=8748542200en_HK
dc.identifier.scopusauthoridNgan, ESW=22234827500en_HK
dc.identifier.scopusauthoridMiao, XP=7102585391en_HK
dc.identifier.scopusauthoridChung, PHY=34568741300en_HK
dc.identifier.scopusauthoridKhong, PL=7006693233en_HK
dc.identifier.scopusauthoridTam, PKH=7202539421en_HK
dc.identifier.issnl1552-4825-

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