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Article: Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis)

TitleNovel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis)
Authors
KeywordsBone tumor
Chondrosarcoma
EXT1
Multiple hereditary exostoses
Mutation
Issue Date2004
PublisherBlackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE
Citation
Clinical Genetics, 2004, v. 66 n. 2, p. 144-151 How to Cite?
AbstractMultiple hereditary exostoses (HME) is an autosomal dominant developmental disorder exhibiting multiple osteocartilaginous bone tumors that generally arise near the ends of growing long bones. Here, we report two large consanguineous families from Pakistan, who display the typical features of HME. Affected individuals also show a previously unreported feature - bilateral overriding of single toes. Analysis using microsatellite markers for each of the known EXT loci, EXT1, EXT2, and EXT3 showed linkage to EXT1. In the first family, mutation analysis of the EXT1 gene revealed that affected individuals were heterozygous for an in-frame G-to-C transversion at the conserved splice donor site in intron 1. This mutation is predicted to disrupt splicing of the first intron and produce a frameshift that leads to a premature termination codon. In the second family, an insertion of an A in exon 8 is predicted to produce a frameshift at codon 555 followed by a premature termination, a further 10 codons downstream. In both families, an increased number of affected male subjects were observed. In affected females in family 2, phenotypic variability and incomplete penetrance were noted. © Blackwell Munksgaard, 2004.
Persistent Identifierhttp://hdl.handle.net/10722/44390
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.authorAhmad, Wen_HK
dc.contributor.authorZaidi, SHEen_HK
dc.contributor.authorHussain, Sen_HK
dc.contributor.authorHaque, Sen_HK
dc.contributor.authorAhmad, Men_HK
dc.contributor.authorCohn, DHen_HK
dc.contributor.authorTsui, LCen_HK
dc.date.accessioned2007-09-12T03:52:37Z-
dc.date.available2007-09-12T03:52:37Z-
dc.date.issued2004en_HK
dc.identifier.citationClinical Genetics, 2004, v. 66 n. 2, p. 144-151en_HK
dc.identifier.issn0009-9163en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44390-
dc.description.abstractMultiple hereditary exostoses (HME) is an autosomal dominant developmental disorder exhibiting multiple osteocartilaginous bone tumors that generally arise near the ends of growing long bones. Here, we report two large consanguineous families from Pakistan, who display the typical features of HME. Affected individuals also show a previously unreported feature - bilateral overriding of single toes. Analysis using microsatellite markers for each of the known EXT loci, EXT1, EXT2, and EXT3 showed linkage to EXT1. In the first family, mutation analysis of the EXT1 gene revealed that affected individuals were heterozygous for an in-frame G-to-C transversion at the conserved splice donor site in intron 1. This mutation is predicted to disrupt splicing of the first intron and produce a frameshift that leads to a premature termination codon. In the second family, an insertion of an A in exon 8 is predicted to produce a frameshift at codon 555 followed by a premature termination, a further 10 codons downstream. In both families, an increased number of affected male subjects were observed. In affected females in family 2, phenotypic variability and incomplete penetrance were noted. © Blackwell Munksgaard, 2004.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.subjectBone tumoren_HK
dc.subjectChondrosarcomaen_HK
dc.subjectEXT1en_HK
dc.subjectMultiple hereditary exostosesen_HK
dc.subjectMutationen_HK
dc.subject.meshConsanguinityen_HK
dc.subject.meshExostoses, multiple hereditary - genetics - pathologyen_HK
dc.subject.meshFrameshift mutation - geneticsen_HK
dc.subject.meshLinkage (genetics)en_HK
dc.subject.meshN-acetylglucosaminyltransferases - geneticsen_HK
dc.titleNovel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis)en_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0009-9163&volume=66&issue=2&spage=144&epage=151&date=2004&atitle=Novel+mutations+in+the+EXT1+gene+in+two+consanguineous+families+affected+with+multiple+hereditary+exostoses+(familial+osteochondromatosis)en_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.1399-0004.2004.00275.xen_HK
dc.identifier.pmid15253765-
dc.identifier.scopuseid_2-s2.0-4344652942en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-4344652942&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume66en_HK
dc.identifier.issue2en_HK
dc.identifier.spage144en_HK
dc.identifier.epage151en_HK
dc.identifier.isiWOS:000222682200010-
dc.publisher.placeDenmarken_HK
dc.identifier.scopusauthoridFaiyazUlHaque, M=6603280179en_HK
dc.identifier.scopusauthoridAhmad, W=7006313694en_HK
dc.identifier.scopusauthoridZaidi, SHE=7101670271en_HK
dc.identifier.scopusauthoridHussain, S=14527291600en_HK
dc.identifier.scopusauthoridHaque, S=7102339121en_HK
dc.identifier.scopusauthoridAhmad, M=7402896220en_HK
dc.identifier.scopusauthoridCohn, DH=7202567606en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK

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