PDF(Pubmed)
Abstract：
Charcot-Marie-Tooth disease(CMT) is a hereditary peripheral neuropathy, characterized by progressive distal hypoesthesia and amyotrophia. CMT is characterized by an X- linked recessive inheritance pattern. The apoptosis-inducing factor mitochondria associated-1 (AIFM1) is the main pathogenic gene of the X-linked recessive Charcot-Marie-Tooth disease-4 with or without cerebellar ataxia (CMTX4), also known as Cowchock syndrome. In this study, we enrolled a family with CMTX from the southeast region of China and identified a novel AIFM1 variant (NM_004208.3: c.931C>G; p.L311V) using whole exon sequencing technology. The results of our study may also be useful for genetic counseling, embryo screening of in vitro fertilization embryos, and prenatal genetic diagnosis.
摘要：
Charcot-Marie-Tooth病（CMT）是一种遗传性周围神经病，以进行性远端感觉减退和肌萎缩为特征。CMT的特征在于X连锁隐性遗传模式。凋亡诱导因子线粒体相关1（AIFM1）是X连锁隐性Charcot-Marie-Tooth病4伴或不伴小脑共济失调（CMTX4）的主要致病基因，也被称为Cowchock综合征。在这项研究中,我们招募了一个来自中国东南部地区的CMTX家族，并使用全外显子测序技术鉴定了一个新的AIFM1变体（NM_004208.3：c.931C>G；p.L311V）。我们的研究结果也可能对遗传咨询有用，体外受精胚胎的胚胎筛选，产前基因诊断.
