A novel AIFM1 mutation in a Chinese family with X-linked Charcot-Marie-Tooth disease type 4

作者：Wang, Binghao; Li, Xiaobo; Wang, Junpu; Liu, Lei; Xie, Yongzhi; Huang, Shunxiang; Pakhrin, Pukar Singh; Jin, Qingwen; Zhu, Chunmei; Tang, Beisha; Niu, Qi^*; Zhang, Ruxu^*

来源：Neuromuscular Disorders, 2018, 28(8): 652-659.

DOI：10.1016/j.nmd.2018.05.008

• Charcot-Marie-Tooth
• CMTX4
• AlFM1
• Mitochondrial abnormalities
• Calf MRI

X-linked Charcot-Marie-Tooth disease type 4 (CMTX4), caused by AIFMI (Apoptosis-Inducing Factor, Mitochondrion associated 1) mutations and associated with deafness and cognitive impairment, is a rare subtype of Charcot-Marie-Tooth disease. Here, we report a novel missense variant of AIFMI in a X-linked recessive Chinese family with childhood-onset, slowly progressive, isolated axonal motor and sensory neuropathy. Calf magnetic resonance imaging revealed fatty infiltration and atrophy severely involving the muscles of peroneal compartment. Pathologies exhibited abnormal mitochondrial morphology and accumulation in axoplasm of nerve fiber and subsarcolemmal area of muscle. A hemizygous variant (c.513G>A, p.Met171IIe) in the family was identified and was classified as likely pathogenic according to the standards and guidelines of the American College of Medical Genetics and Genomics. Our report expands the genetic spectrum of diseases related to AIFM1 mutations and indicates that fatty infiltration and atrophy of muscles in the peroneal compartment may be a feature of CMTX4 in early stage.

• 出版日期2018-8
• 单位中南大学; 南京医科大学