HINT1基因的新型突变导致常染色体隐性遗传性轴索性神经病合并神经性肌强直。
Novel mutations in HINT1 gene cause the autosomal recessive axonal neuropathy with neuromyotonia.
作者信息
Wang Zhangyang, Lin Jie, Qiao Kai, Cai Shuang, Zhang Victor W, Zhao Chongbo, Lu Jiahong
机构信息
Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
出版信息
Eur J Med Genet. 2019 Mar;62(3):190-194. doi: 10.1016/j.ejmg.2018.07.009. Epub 2018 Jul 11.
Autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM) is a rare form of hereditary neuropathy. Mutations in HINT1 gene have been identified to be the cause of this disorder. We report two unrelated patients who presented gait impairment, progressive distal muscle weakness and atrophy, neuromyotonia and foot deformities. Electrophysiological studies showed axonal motor neuropathy and neuromyotonic discharges. Using Next-generation sequencing, we identified two homozygous mutations, NM_005340.6: c.112T > C; p.(Cys38Arg) and NM_005340.6: c.289G > A; p.(Val97Met) in HINT1 gene. Based on the clinical presentation and molecular genetic analyses, ARAN-NM was diagnosed in both patients and NM_005340.6: c.112T > C; p.(Cys38Arg) and NM_005340.6: c.289G > A; p.(Val97Met) in HINT1 gene were believe to be causative for the disorder.
伴有神经肌强直的常染色体隐性遗传性轴索性神经病（ARAN-NM）是一种罕见的遗传性神经病。已确定HINT1基因突变是导致这种疾病的原因。我们报告了两名无血缘关系的患者，他们表现出步态障碍、进行性远端肌肉无力和萎缩、神经肌强直以及足部畸形。电生理研究显示为轴索性运动神经病和神经肌强直放电。通过新一代测序，我们在HINT1基因中鉴定出两个纯合突变，即NM_005340.6:c.112T＞C；p.（Cys38Arg）和NM_005340.6:c.289G＞A；p.（Val97Met）。基于临床表现和分子遗传学分析，两名患者均被诊断为ARAN-NM，并且认为HINT1基因中的NM_005340.6:c.112T＞C；p.（Cys38Arg）和NM_005340.6:c.289G＞A；p.（Val97Met）是该疾病的致病原因。
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