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Article: From VACTERL-H to heterotaxy: Variable expressivity of ZIC3-related disorders

TitleFrom VACTERL-H to heterotaxy: Variable expressivity of ZIC3-related disorders
Authors
KeywordsVACTERL H syndrome
Chromosome analysis
ZIC3 gene
Heterotaxy syndrome
X chromosome linked disorder
Issue Date2011
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, 2011, v. 155 n. 5, p. 1123-1128 How to Cite?
AbstractThe ZIC3 gene encodes a zinc finger protein which functions as a transcription factor in early stages of left-right body axis formation. Mutations in this X-linked gene cause a variety of clinical manifestations including heterotaxy, complex or isolated heart defect as well as other midline urogenital and hindgut malformations. We report a four generation family with X-linked heterotaxy associated with a deletion of the ZIC3 gene at Xq26.3. The index fetus of our proband showed classical features of heterotaxy while her maternal uncle and one brother had imperforate anus and her other brother had features suggestive of VACTERL-H without heterotaxy. A 1.4Mb deletion in Xq26.3 including the ZIC3 gene was found in the fetus. Six females in the family were found to be asymptomatic carriers. Our report indicates that some of the cases with VACTERL-H syndrome may be caused by a mutation or deletion of the ZIC3 gene. © 2011 Wiley-Liss, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/133324
ISSN
2015 Impact Factor: 2.082
2015 SCImago Journal Rankings: 1.115
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorChung, Ben_HK
dc.contributor.authorShaffer, LGen_HK
dc.contributor.authorKeating, Sen_HK
dc.contributor.authorJohnson, Jen_HK
dc.contributor.authorCasey, Ben_HK
dc.contributor.authorChitayat, Den_HK
dc.date.accessioned2011-05-11T08:31:14Z-
dc.date.available2011-05-11T08:31:14Z-
dc.date.issued2011en_HK
dc.identifier.citationAmerican Journal Of Medical Genetics, Part A, 2011, v. 155 n. 5, p. 1123-1128en_HK
dc.identifier.issn1552-4825en_HK
dc.identifier.urihttp://hdl.handle.net/10722/133324-
dc.description.abstractThe ZIC3 gene encodes a zinc finger protein which functions as a transcription factor in early stages of left-right body axis formation. Mutations in this X-linked gene cause a variety of clinical manifestations including heterotaxy, complex or isolated heart defect as well as other midline urogenital and hindgut malformations. We report a four generation family with X-linked heterotaxy associated with a deletion of the ZIC3 gene at Xq26.3. The index fetus of our proband showed classical features of heterotaxy while her maternal uncle and one brother had imperforate anus and her other brother had features suggestive of VACTERL-H without heterotaxy. A 1.4Mb deletion in Xq26.3 including the ZIC3 gene was found in the fetus. Six females in the family were found to be asymptomatic carriers. Our report indicates that some of the cases with VACTERL-H syndrome may be caused by a mutation or deletion of the ZIC3 gene. © 2011 Wiley-Liss, Inc.en_HK
dc.languageengen_US
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.rightsAmerican Journal of Medical Genetics Part A. Copyright © John Wiley & Sons, Inc.-
dc.subjectVACTERL H syndrome-
dc.subjectChromosome analysis-
dc.subjectZIC3 gene-
dc.subjectHeterotaxy syndrome-
dc.subjectX chromosome linked disorder-
dc.titleFrom VACTERL-H to heterotaxy: Variable expressivity of ZIC3-related disordersen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1552-4825&volume=155&issue=5&spage=1123&epage=1128&date=2011&atitle=From+VACTERL-H+to+heterotaxy:+variable+expressivity+of+ZIC3-related+disorders-
dc.identifier.emailChung, B:bhychung@hku.hken_HK
dc.identifier.authorityChung, B=rp00473en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1002/ajmg.a.33859en_HK
dc.identifier.pmid21465648-
dc.identifier.scopuseid_2-s2.0-79955031510en_HK
dc.identifier.hkuros185059en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-79955031510&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume155en_HK
dc.identifier.issue5en_HK
dc.identifier.spage1123en_HK
dc.identifier.epage1128en_HK
dc.identifier.isiWOS:000290716700026-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridChung, B=7203043997en_HK
dc.identifier.scopusauthoridShaffer, LG=7103378971en_HK
dc.identifier.scopusauthoridKeating, S=35600808100en_HK
dc.identifier.scopusauthoridJohnson, J=47761093900en_HK
dc.identifier.scopusauthoridCasey, B=7103055959en_HK
dc.identifier.scopusauthoridChitayat, D=7005750871en_HK

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