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Two novel MPZ mutations in Chinese CMT patients
Author(s) -
Liu Lei,
Li Xiaobo,
Zi Xiaohong,
Huang Shunxiang,
Zhan Yajing,
Jiang Mingming,
Guo Jifeng,
Xia Kun,
Tang Beisha,
Zhang Ruxu
Publication year - 2013
Publication title -
journal of the peripheral nervous system
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1111/jns5.12040
Subject(s) - missense mutation , mutation , genetics , phenotype , gene duplication , gene , gene mutation , microbiology and biotechnology , biology
To investigate the myelin protein zero ( MPZ ) gene mutation and related clinical features in Chinese Charcot‐Marie‐Tooth (CMT) patients, we screened the coding sequence of MPZ in 70 unrelated CMT index patients after excluding the PMP22 duplication, Cx32 and MFN2 mutations. We found four different missense mutations: c. 194C >T, c. 242A >T, c. 371C >T, and c. 419C >G. The frequency of MPZ mutation was approximately 4.35% of the total, 3.08% of CMT1 , and 6% of CMT2 . Mutations c. 242A >T and c. 419C >G are novel. The mutation c. 242A >T exhibited late onset and rapidly progressive CMT2 phenotype. The mutation c. 419C >G exhibited relatively late onset and slowly progressive CMT1 phenotype.