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Article: A novel deletion mutation in GJB1 causes X-linked Charcot-Marie-Tooth disease in a Han Chinese family

TitleA novel deletion mutation in GJB1 causes X-linked Charcot-Marie-Tooth disease in a Han Chinese family
Authors
KeywordsCharcot-Marie-Tooth disease
GJB1 (connexin32)
Linkage analysis
Loss of function mutation
X-linked
Issue Date2010
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/32891
Citation
Muscle And Nerve, 2010, v. 42 n. 6, p. 922-926 How to Cite?
AbstractX-linked Charcot-Marie-Tooth disease CMT (CMTX) is predominantly caused by mutations in the GJB1 gene that encode connexin32. We describe the clinical findings and the identification of a novel mutation in GJB1 in a large Han Chinese family with CMTX. Linkage to GJB1 was determined by genotyping five polymorphic markers flanking GJB1. Sequence alterations were determined by directly sequencing the coding region of the GJB1 gene. The affected members have variable clinical manifestations. Linkage analysis confirmed the cosegregation of the disease with the GJB1 locus. Sequencing of the GJB1 gene revealed a 1-basepair deletion (c.110delT) in the coding region. The frameshift begins at amino acid 37 and generates a premature stop codon at position 83. The shortened peptide is unlikely to be functional, as it lacks most of the functional domains. The CMTX in this family is caused by a novel loss of function mutation. © 2010 Wiley Periodicals, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/139590
ISSN
2015 Impact Factor: 2.713
2015 SCImago Journal Rankings: 1.141
ISI Accession Number ID
Funding AgencyGrant Number
National Science Foundation30830065
National High-Tech Research and Development Program of China2006AA02A406
Funding Information:

This work was supported by the National Science Foundation (Grant 30830065) and the National High-Tech Research and Development Program of China (Grant 2006AA02A406). The authors thank the patients and their families for their participation.

References

 

DC FieldValueLanguage
dc.contributor.authorLin, Pen_HK
dc.contributor.authorMao, Fen_HK
dc.contributor.authorLiu, Qen_HK
dc.contributor.authorYang, Wen_HK
dc.contributor.authorShao, Cen_HK
dc.contributor.authorYan, Cen_HK
dc.contributor.authorGong, Yen_HK
dc.date.accessioned2011-09-23T05:52:12Z-
dc.date.available2011-09-23T05:52:12Z-
dc.date.issued2010en_HK
dc.identifier.citationMuscle And Nerve, 2010, v. 42 n. 6, p. 922-926en_HK
dc.identifier.issn0148-639Xen_HK
dc.identifier.urihttp://hdl.handle.net/10722/139590-
dc.description.abstractX-linked Charcot-Marie-Tooth disease CMT (CMTX) is predominantly caused by mutations in the GJB1 gene that encode connexin32. We describe the clinical findings and the identification of a novel mutation in GJB1 in a large Han Chinese family with CMTX. Linkage to GJB1 was determined by genotyping five polymorphic markers flanking GJB1. Sequence alterations were determined by directly sequencing the coding region of the GJB1 gene. The affected members have variable clinical manifestations. Linkage analysis confirmed the cosegregation of the disease with the GJB1 locus. Sequencing of the GJB1 gene revealed a 1-basepair deletion (c.110delT) in the coding region. The frameshift begins at amino acid 37 and generates a premature stop codon at position 83. The shortened peptide is unlikely to be functional, as it lacks most of the functional domains. The CMTX in this family is caused by a novel loss of function mutation. © 2010 Wiley Periodicals, 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/jhome/32891en_HK
dc.relation.ispartofMuscle and Nerveen_HK
dc.rightsMuscle & Nerve. Copyright © John Wiley & Sons, Inc.-
dc.subjectCharcot-Marie-Tooth diseaseen_HK
dc.subjectGJB1 (connexin32)en_HK
dc.subjectLinkage analysisen_HK
dc.subjectLoss of function mutationen_HK
dc.subjectX-linkeden_HK
dc.subject.meshCharcot-Marie-Tooth Disease - genetics - physiopathology-
dc.subject.meshConnexins - genetics-
dc.subject.meshElectromyography-
dc.subject.meshGenetic Diseases, X-Linked - genetics - physiopathology-
dc.subject.meshSequence Deletion-
dc.titleA novel deletion mutation in GJB1 causes X-linked Charcot-Marie-Tooth disease in a Han Chinese familyen_HK
dc.typeArticleen_HK
dc.identifier.emailYang, W:yangwl@hkucc.hku.hken_HK
dc.identifier.authorityYang, W=rp00524en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1002/mus.21790en_HK
dc.identifier.pmid21104867-
dc.identifier.scopuseid_2-s2.0-78649668073en_HK
dc.identifier.hkuros196023en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-78649668073&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume42en_HK
dc.identifier.issue6en_HK
dc.identifier.spage922en_HK
dc.identifier.epage926en_HK
dc.identifier.isiWOS:000285172400012-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridLin, P=37022502300en_HK
dc.identifier.scopusauthoridMao, F=36514971400en_HK
dc.identifier.scopusauthoridLiu, Q=7406292285en_HK
dc.identifier.scopusauthoridYang, W=23101349500en_HK
dc.identifier.scopusauthoridShao, C=7102817023en_HK
dc.identifier.scopusauthoridYan, C=7401746616en_HK
dc.identifier.scopusauthoridGong, Y=7402473493en_HK

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