A novel Gly137Asp MPZ mutation in a Charcot-Marie-Tooth disease type 1B family

作者：Park Eun Kyung; Chung Ki Wha; Lee Kyu Sun; Lee Hye Jin; Yun Bo Ram; Kim Je Nyun; Shin Jong Hyu; Choi Byung Ok^*

来源：Genes & Genomics, 2011, 33(6): 659-664.

DOI：10.1007/s13258-011-0101-6

• Charcot-Marie-Tooth disease (CMT)
• MPZ Mutation
• Korean

Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous peripheral neuropathy. Myelin protein zero (MPZ) is a major myelin protein of the peripheral nerve and mutations in its gene cause a wide phenotypic spectrum including CMT1B, CMT2I, CMT2J and Dejerine-Sottas syndrome. The objective of this study was to find the causative mutation in a Korean large autosomal dominant demyelinating CMT family (FC240). Clinical disabilities were measured by a functional disability scale (FDS), a CMT neuropathy score (CMTNS), and a 9-hole peg test (9-HPT). Mutational analysis of the FC240 family revealed a novel c.410G > A (Gly137Asp) mutation in the MPZ gene. The mutation was completely co-segregated with affected members in the family, and was not found in controls. The clinical features and electrophysiological findings were compatible with CMT1B. Clinical symptoms revealed phenotypic diversities among family members and generations within the same family. In addition, the present patients with Gly137Asp mutation showed earlier age at onset and slow progression than the reported patient with Gly137Ser. Therefore, it seems that there were wide phenotypic variations within the same family harboring Gly137Asp mutation, and between Gly137Asp and Gly137Ser mutations.

• 出版日期2011-12