X-linked Charcot-Marie-Tooth disease predominates in a cohort of multiethnic Malaysian patients

作者：Cooper Michael A; Herda Trent J^*

来源：Muscle & Nerve, 2014, 49(2): 202-208.

DOI：10.1002/mus.23892

• GJB1
• PMP22
• genetics
• Charcot-Marie-Tooth disease
• MPZ

Introduction: Data regarding Charcot-Marie-Tooth disease is lacking in Southeast Asian populations. We investigated the frequency of the common genetic mutations in a multiethnic Malaysian cohort. Methods: Patients with features of Charcot-Marie-Tooth disease or hereditary liability to pressure palsies were investigated for PMP22 duplication, deletion, and point mutations and GJB1, MPZ, and MFN2 point mutations. Results: Over a period of 3 years, we identified 25 index patients. A genetic diagnosis was reached in 60%. The most common were point mutations in GJB1, accounting for X-linked Charcot-Marie-Tooth disease (24% of the total patient population), followed by PMP22 duplication causing Charcot-Marie-Tooth disease type 1A (20%). We also discovered 2 novel GJB1 mutations, c.521C>T (Proline174Leucine) and c.220G>A (Valine74Methionine). Conclusions: X-linked Charcot-Marie-Tooth disease was found to predominate in our patient cohort. We also found a better phenotype/genotype correlation when applying a more recently recommended genetic approach to Charcot-Marie-Tooth disease. Muscle Nerve 49: 198-201, 2014

• 出版日期2014-2