摘要
Abstract
Objective To investigate the clinical phenotype,electrophysiological features,and family characteristics of a family with X-linked dominant hereditary Charcot-Marie-Tooth disease type 1(CMTX1)associated with GJB1 gene mutation.Methods Related clinical data were collected from ten patients in the four generations of a family with CMTX1,among whom three patients underwent electrophysiological nerve conduction detection,and the proband underwent high-throughput whole-exome sequencing,while the other patients in the family underwent Sanger sequencing.Results There were a total of ten patients in this family,with four male patients and six female patients,and their clinical manifestations included varying degrees of symmetrical distal limb weakness and atrophy,hand tremor,pes cavus,hammer toes,and reductions in acupuncture and vibration sensations.The female patients in this family tended to have severe clinical phenotypes,and electrophysiological results showed peripheral nerve myelin sheath and axonal damage.Genetic testing showed that the proband had a heterozygous mutation of c.43C>T(p.Arg15Trp)in the GJB1 gene,which was a pathogenic mutation.The proband's two brothers and niece all carried this mutation at the same site.Conclusion CMTX1 has obvious clinical heterogeneity,and it is of great significance to fully understand the clinical phenotype,electrophysiological features,and genetic characteristics of CMTX1 associated with heterozygous mutations in the GJB1 gene.关键词
腓骨肌萎缩症/GJB1基因/临床表型/电生理Key words
Charcot-Marie-Tooth disease/GJB1 gene/Clinical phenotype/Electrophysiology分类
医药卫生
