一个X连锁腓骨肌萎缩症家系的临床和分子遗传学分析

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

目的分析1个x连锁腓骨肌萎缩症家系的临床特点及分子遗传学病因。方法对先证者及其家系成员进行详细的临床检查。采集家系成员的外周血并提取基因组DNA，应用PCR结合直接DNA测序分析GJB1基因的突变。结果该腓骨肌萎缩家系为x连锁遗传。在该家系中GJB1基因错义突变C．614A〉G（P．Asn205Ser）与表型共分离。结论GJB1基因错义突变c．614A〉G（p．Asn205Ser）是导致该x连锁腓骨肌萎缩症家系致病的原因。

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. 614AG （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.