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

来源 :第十二次全国医学遗传学学术会议 | 被引量 : 0次 | 上传用户:ruanjianshixi
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  objective To analyze the clinical manifestations and investigate the causative mutation of a Chinese family with X-linked Charcot-Marie-Tooth(CMTX).Methods The clinical, electrophysiologieal and pathological features in the family members were carefully checked by neurologists.Blood samples were obtained from the index patient and other family members and then genomic DNAs were extracted.The mutation analysis of GJB1 was performed by PCR and direct sequencing.Results The family is accordant to X-linked inheritance and the affected cases have typically clinical manifestations.The mutant site is c.614A>G (p.Asn205Ser) of GJB1 in the CMTX family.Conclusions The variant, c.614A>G (p.Asn205Ser) in GJB1, is co-segregated with the phenotype in the family.The mutant site is a novel mutation in Chinese population.
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