[Clinical and genetic analysis of a Chinese family affected with X-linked Charcot-Marie-Tooth disease].

• DOI: 10.3760/cma.j.issn.1003-9406.2013.06.005
• Publication Date: 2013-12-01
• Authors: Yapei Feng; Lin Li; Xiao Li; Guilong Wang; Jiangxia Li; Qiji Liu
• Keywords: Proband; Tooth disease; Chinese family; genomic DNA

To study the clinical manifestations and identify causative mutations for a Chinese family affected with X-linked Charcot-Marie-Tooth disease.Clinical, electrophysiological pathological features of were carefully analyzed by neurologists. Blood samples obtained from proband other members. Genomic DNA was extracted. Mutation analysis GJB1 gene PCR direct sequencing.The has fit inheritance, individuals have typical manifestations. A c.614A>G (p.Asn205Ser) mutation detected in all family.A is co-segregated disease phenotype this probably underlies disease.