title: [Clinical and genetic analysis of a Chinese family affected with X-linked Charcot-Marie-Tooth disease].
abstract: OBJECTIVE
  To study the clinical manifestations and identify causative mutations for a Chinese family affected with X-linked Charcot-Marie-Tooth disease.
  
  
  METHODS
  Clinical, electrophysiological and pathological features of the family were carefully analyzed by neurologists. Blood samples were obtained from the proband and other family members. Genomic DNA was extracted. Mutation analysis of GJB1 gene was analyzed with PCR and direct sequencing.
  
  
  RESULTS
  The family has fit with X-linked inheritance, and the affected individuals have typical clinical manifestations. A c.614A>G (p.Asn205Ser) mutation was detected in the GJB1 gene in all affected individuals in the family.
  
  
  CONCLUSIONS
  A c.614A>G (p.Asn205Ser) mutation of GJB1 gene is co-segregated with the disease phenotype in this family and probably underlies the disease.
authors: Key Laboratory for Experimental Teratology of Ministry of Education and Department of Medical Genetics, Shandong University School of Medicine, Jinan, Shandong 250012, P.R. China. liuqiji@sdu.edu.cn.
authors: Yapei
authors: Y
authors: Feng
authors: Lin
authors: L
authors: Li
authors: Xiao
authors: X
authors: Li
authors: Guilong
authors: G
authors: Wang
authors: Jiangxia
authors: J
authors: Li
authors: Qiji
authors: Q
authors: Liu
mesh_terms: D044466:Asian People / Q000235:genetics*; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002648:Child; D017630:Connexins / Q000235:genetics; D005260:Female; D050172:Genes, X-Linked / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D000097002:Gap Junction beta-1 Protein