MFN2‐related genetic and clinical features in a cohort of Chinese CMT2 patients

• DOI: 10.1111/jns.12159
• Publication Date: 2016-01-23T06:58:42Z
• Authors: Yongzhi Xie; Xiaobo Li; Lei Liu; Zhengmao Hu; Shunxiang Huang; Yajin Zhan; Xiaohong Zi; Kun Xia; Beisha Tang; Ruxu Zhang
• Keywords: MFN2

Abstract Charcot‐Marie‐Tooth disease 2A ( CMT2A ), caused by mutations in the mitofusin 2 gene MFN2 is most common CMT2 subtype. The aim of our study to assess frequency and summarize genetic clinical characteristics Chinese patients. A total 17 coding exons were detected direct sequencing 82 unrelated families diagnosed as . Clinical evaluations analyzed among We identified 14 missense variants 9 sporadic 6 familial cases, including four novel T129A , S249F Q367P Q674L 4 known R94W R94Q T105M C132Y M376V Q751X rare K120E C217F K307E T356S ). 23 patients had early‐onset phenotype. Two a CMTNS score 0 10; 16 11 20; 7 greater than 20. Five confirmed de novo origin. Six located or closed GTPase domain. report variants. account for 18% mainland China. pedigree are early onset moderate phenotypes.