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

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. Conclusion: 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.