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Article: Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes

TitleFine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes
Authors
KeywordsLobster-claw feet
Monodactyly and bidactyly
SHFM2
X-linked
Issue Date2005
PublisherBlackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE
Citation
Clinical Genetics, 2005, v. 67 n. 1, p. 93-97 How to Cite?
AbstractSplit-hand/split-foot malformation (SHFM) is a genetically heterogeneous disorder, with five known loci, that causes a lack of median digital rays, syndactyly, and aplasia or hypoplasia of the phalanges, metacarpals, and metatarsals. In the only known SHFM2 family, affected males and homozygous females exhibit monodactyly or bidactyly of the hands and lobster-claw feet. This family (1) was revisited to include additional subjects and genealogical data. All 39 affected males and three females fully expressed the SHFM, while 13 carrier females examined exhibited partial expression of SHFM. We narrowed the previously linked 22-Mb genetic interval on Xq24-q26 (2), by analyzing additional family members and typing additional markers. The results define a 5.1-Mb region with a new centromeric boundary at DXS1114 and a telomeric boundary at DXS1192. We did not identify mutations in the exons and exon/intron boundaries of 19 candidate genes. These data suggest that the mutation may lie in a regulatory region of one of these candidate genes or in another gene within the SHFM2 region with unclear role in limb development. © Blackwell Munksgaard, 2005.
Persistent Identifierhttp://hdl.handle.net/10722/44392
ISSN
2015 Impact Factor: 3.892
2015 SCImago Journal Rankings: 1.630
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorFaiyazUlHaque, Men_HK
dc.contributor.authorZaidi, SHEen_HK
dc.contributor.authorKing, LMen_HK
dc.contributor.authorHaque, Sen_HK
dc.contributor.authorPatel, Men_HK
dc.contributor.authorAhmad, Men_HK
dc.contributor.authorSiddique, Ten_HK
dc.contributor.authorAhmad, Wen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorCohn, DHen_HK
dc.date.accessioned2007-09-12T03:52:39Z-
dc.date.available2007-09-12T03:52:39Z-
dc.date.issued2005en_HK
dc.identifier.citationClinical Genetics, 2005, v. 67 n. 1, p. 93-97en_HK
dc.identifier.issn0009-9163en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44392-
dc.description.abstractSplit-hand/split-foot malformation (SHFM) is a genetically heterogeneous disorder, with five known loci, that causes a lack of median digital rays, syndactyly, and aplasia or hypoplasia of the phalanges, metacarpals, and metatarsals. In the only known SHFM2 family, affected males and homozygous females exhibit monodactyly or bidactyly of the hands and lobster-claw feet. This family (1) was revisited to include additional subjects and genealogical data. All 39 affected males and three females fully expressed the SHFM, while 13 carrier females examined exhibited partial expression of SHFM. We narrowed the previously linked 22-Mb genetic interval on Xq24-q26 (2), by analyzing additional family members and typing additional markers. The results define a 5.1-Mb region with a new centromeric boundary at DXS1114 and a telomeric boundary at DXS1192. We did not identify mutations in the exons and exon/intron boundaries of 19 candidate genes. These data suggest that the mutation may lie in a regulatory region of one of these candidate genes or in another gene within the SHFM2 region with unclear role in limb development. © Blackwell Munksgaard, 2005.en_HK
dc.languageengen_HK
dc.publisherBlackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGEen_HK
dc.relation.ispartofClinical Geneticsen_HK
dc.rightsFor full bibliographic citation, please refer to the version available at www.blackwell-synergy.comen_HK
dc.subjectLobster-claw feeten_HK
dc.subjectMonodactyly and bidactylyen_HK
dc.subjectSHFM2en_HK
dc.subjectX-linkeden_HK
dc.subject.meshChromosome mapping - methodsen_HK
dc.subject.meshChromosomes, human, x - geneticsen_HK
dc.subject.meshDna mutational analysisen_HK
dc.subject.meshGenetic diseases, x-linked - geneticsen_HK
dc.subject.meshHaplotypesen_HK
dc.titleFine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genesen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0009-9163&volume=67&issue=1&spage=93&epage=97&date=2005&atitle=Fine+mapping+of+the+X-linked+split-hand/split-foot+malformation+(SHFM2)+locus+to+a+5.1-Mb+region+on+Xq26.3+and+analysis+of+candidate+genesen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltexten_HK
dc.identifier.doi10.1111/j.1399-0004.2004.00369.xen_HK
dc.identifier.pmid15617554-
dc.identifier.scopuseid_2-s2.0-19944432702en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-19944432702&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume67en_HK
dc.identifier.issue1en_HK
dc.identifier.spage93en_HK
dc.identifier.epage97en_HK
dc.identifier.isiWOS:000226665200015-
dc.publisher.placeDenmarken_HK
dc.identifier.scopusauthoridFaiyazUlHaque, M=6603280179en_HK
dc.identifier.scopusauthoridZaidi, SHE=37462451500en_HK
dc.identifier.scopusauthoridKing, LM=7403028648en_HK
dc.identifier.scopusauthoridHaque, S=7102339121en_HK
dc.identifier.scopusauthoridPatel, M=7403721769en_HK
dc.identifier.scopusauthoridAhmad, M=7402896220en_HK
dc.identifier.scopusauthoridSiddique, T=7004493828en_HK
dc.identifier.scopusauthoridAhmad, W=7006313694en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridCohn, DH=7202567606en_HK

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