A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family  

作　　者：Jia-Ze Tan Yuan Man Fei Xiao 

机构地区：[1]Department of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Neurology, Chongqing 400016, China

出　　处：《Chinese Medical Journal》2016年第21期2596-2602,共7页中华医学杂志（英文版）

摘　　要：Background：Congenital myasthenic syndromes are a group orrare disorders that are clinically and genetically heterogeneous and caused by mutations in the genes encoding proteins of the neuromuscular junction.Here,we described a Chinese family that presented with phenotypes of classic slow-channel congenital myasthenic syndrome （SCCMS）.Methods：Clinical characteristics and electrophysiological features of three patients from a Chinese family were examined,and next-generation sequencing followed by direct sequencing was carried out.Results：The patients revealed variability in clinical and electrophysiological features.However,weakness,scoliosis,and repetitive-compound muscle action potential were found in all affected members in the family.A heterozygous C〉T missense mutation at nucleotide 865 in acetylcholine receptor epsilon-subunit （CHRNE） gene that causes a leucine-to-phenylalanine substitution at position 289 （L289F） was found.Conclusions：We reported a SCCMS family of Chinese origin.In the family,classical clinical phenotype with phenotypic variability among different members was found.Genetic testing could help diagnose this rare disease.Background：Congenital myasthenic syndromes are a group orrare disorders that are clinically and genetically heterogeneous and caused by mutations in the genes encoding proteins of the neuromuscular junction.Here,we described a Chinese family that presented with phenotypes of classic slow-channel congenital myasthenic syndrome （SCCMS）.Methods：Clinical characteristics and electrophysiological features of three patients from a Chinese family were examined,and next-generation sequencing followed by direct sequencing was carried out.Results：The patients revealed variability in clinical and electrophysiological features.However,weakness,scoliosis,and repetitive-compound muscle action potential were found in all affected members in the family.A heterozygous C〉T missense mutation at nucleotide 865 in acetylcholine receptor epsilon-subunit （CHRNE） gene that causes a leucine-to-phenylalanine substitution at position 289 （L289F） was found.Conclusions：We reported a SCCMS family of Chinese origin.In the family,classical clinical phenotype with phenotypic variability among different members was found.Genetic testing could help diagnose this rare disease.

关 键 词：Acetylcholine Receptor Epsilon-subunit Gene Repetitive-compound Muscle Action Potential Repetitive NerveStimulation Slow-channel Congenital Myasthenie Syndrome 

分 类 号：R746.1[医药卫生—神经病学与精神病学]