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首页> 外文期刊>Journal of the peripheral nervous system : >Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study
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Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study

机译：临床和遗传多样性疾病与腓骨肌萎缩进行MFN2突变在一个大的案例研究

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摘要

Charcot-Marie-Tooth disease (CMT) constitutes a heterogeneous group affecting motor and sensory neurons in the peripheral nervous system. MFN2 mutations are the most common cause of axonal CMT. We describe the clinical and mutational spectra of CMT patients harboring MFN2 mutations in Japan. We analyzed 1,334 unrelated patients with clinically suspected CMT referred by neurological and neuropediatric departments throughout Japan. We conducted mutation screening using a DNA microarray, targeted resequencing, and whole-exome sequencing. We identified pathogenic or likely pathogenic MFN2 variants from 79 CMT patients, comprising 44 heterozygous and 1 compound heterozygous variants. A total of 15 novel variants were detected. An autosomal dominant family history was determined in 43 cases, and the remaining 36 cases were reported as sporadic with no family history. The mean onset age of CMT in these patients was 12 +/- 14 (range 0-59) years. We observed neuropathic symptoms in all patients. Some had optic atrophy, vocal cord paralysis, or spasticity. We detected a compound heterozygous MFN2 mutation in a patient with a severe phenotype and the co-occurrence of MFN2 and PMP22 mutations in a patient with an uncommon phenotype. MFN2 is themost frequent causative gene of CMT2 in Japan. We present 15 novel variants and broad clinical and mutational spectra of Japanese MFN2-related CMT patients. Regardless of the onset age and inheritance pattern, MFN2 gene analysis should be performed. Combinations of causative genes should be considered to explain the phenotypic diversity.
机译：疾病腓骨肌萎缩(CMT)构成异质群体影响运动和感觉周围神经系统的神经元。轴突的突变是最常见的原因CMT。光谱的CMT患者进行MFN2窝藏突变在日本。与临床疑似CMT提到神经和neuropediatric部门在日本。使用DNA微阵列,有针对性的重新排序,和whole-exome测序。致病性或可能进行MFN2致病性变异从79年CMT的病人,包括44杂合的和1复合杂合变异体。15小说变异检测。占主导地位的家族病史决心在43个情况下,剩下的36例报道零星的没有家族病史。这些患者的发病年龄CMT是12 + / - 14所示(范围0-59)年。所有患者的症状。声带麻痹或痉挛状态。进行MFN2复合杂合的突变病人与严重的表型同现进行MFN2和PMP22基因突变病人一个罕见的表型。最常见的致病基因CMT2在日本。我们现在15小说变异和广泛的临床和日本MFN2-related突变谱CMT的病人。应该继承模式,进行MFN2基因分析执行。被视为解释表型多样性。

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