title: A novel deletion mutation in GJB1 causes X-linked Charcot-Marie-Tooth disease in a Han Chinese family.
abstract: X-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.
authors.affiliation: Key Laboratory for Experimental Teratology, Ministry of Education and Institute of Medical Genetics, Shandong University School of Medicine, Jinan, Shandong 250012, China.
authors.forename: Pengfei
authors.initials: P
authors.lastname: Lin
authors.forename: Fei
authors.initials: F
authors.lastname: Mao
authors.forename: Qiji
authors.initials: Q
authors.lastname: Liu
authors.forename: Wanling
authors.initials: W
authors.lastname: Yang
authors.forename: Changshun
authors.initials: C
authors.lastname: Shao
authors.forename: Chuanzhu
authors.initials: C
authors.lastname: Yan
authors.forename: Yaoqin
authors.initials: Y
authors.lastname: Gong
mesh_terms: D044466:Asian People / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000503:physiopathology; D017630:Connexins / Q000235:genetics*; D004576:Electromyography; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000503:physiopathology; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D009431:Neural Conduction / Q000502:physiology; D010375:Pedigree; D017384:Sequence Deletion; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D000097002:Gap Junction beta-1 Protein