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

Journal of the Peripheral Nervous System : JPNS
Yongzhi XieRuxu Zhang

Abstract

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

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Citations

Jul 17, 2018·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Rui WuYun Yuan
Jul 1, 2017·Journal of the Peripheral Nervous System : JPNS·Masahiro AndoHiroshi Takashima
Jun 14, 2020·Cold Spring Harbor Molecular Case Studies·Ricardo MadridGholson J Lyon
Feb 19, 2021·Frontiers in Cell and Developmental Biology·Cara R SchiavonUri Manor
Jun 15, 2021·Internal Medicine·Haitian NanYoshihisa Takiyama
Jul 1, 2021·Journal of the Peripheral Nervous System : JPNS·Eduardo Boiteux Uchôa CavalcantiOsvaldo José Moreira do Nascimento

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