[Analysis of a Chinese Charcot-Marie-Tooth disease type 2D pedigree].

Objective: To achieve definite diagnosis in a clinically diagnosed Charcot-Marie-Tooth disease (CMT) pedigree and broaden the mutational diversity of CMT-related mutations in Chinese Han population. Methods: Patients clinically diagnosed with CMT were recruited from Department of Neurology, Chinese PLA General Hospital between December, 2012 to June, 2016. Clinical examination, laboratory tests, nerve conduction studies, and molecular and bioinformatics analyses were performed on a clinically diagnosed CMT pedigree. Results: In the pedigree, a GARS mutation (c.794C>T, p. S265F) was identified and CMT2D was diagnosed. Conclusion: The newly identified GARS mutation has broaden the mutational diversity of CMT2D in Chinese Han population.目的： 对一临床诊断为腓骨肌萎缩症(CMT)的家系进行基因检测以明确诊断，增加中国人群CMT相关基因突变多样性。 方法： 收集2012年12月至2016年6月连续在解放军总医院神经内科就诊且临床诊断为CMT的患者。对一临床诊断为CMT的家系进行病史采集、神经系统体格检查、实验室检查、神经传导检查(NCS)以及高通量靶向测序和生物信息学分析。 结果： 在中国汉族人群中发现了一个由GARS基因第7外显子c.794C>T (p.S265F)错义突变所致的CMT2D的家系。 结论： 本研究发现的GARS基因突变：c.794C>T (p.S265F)增加了中国人群GARS基因突变的多样性。.