IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients

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• 作者：Lei Liu^a ; Xiaobo Li^a ; Zhengmao Hu^b ; Xiao Mao^c ; Xiaohong Zi^a ; Kun Xia^b ; Beisha Tang^b ; ^c ; Ruxu Zhang^a ; ^{zhangruxu@vip.163.com}
• 关键词：IGHMBP2 ; Autosomal recessive Charcot&ndash ; Marie&ndash ; Tooth type 2S (AR-CMT2S) ; Spinal muscular atrophy with respiratory distress type I (SMARD1) ; Gene panel testing
• 刊名：Neuromuscular Disorders
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：27
• 期：2
• 页码：193-199
• 全文大小：1498 K
• 卷排序：27

文摘

This is the first report which analyzed the clinical and genetic features of AR-CMT2S in the mainland of China. We found the frequency of IGHMBP2 mutations is 6.5% in CMT2 without dominant inheritance. We analyzed the effect of the novel splice acceptor site mutation c.1061-2A > G at RNA level of IGHMBP2.