X‐linked Charcot–Marie–Tooth disease predominates in a cohort of multiethnic Malaysian patients |
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Authors: | Nortina Shahrizaila DM FRCP Sarimah Samulong BSc Shelisa Tey BSc Liaw Chiew Suan BSc Lao Kah Meng BSc Khean Jin Goh FRCP Azlina Ahmad‐Annuar PhD |
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Institution: | 1. Division of Neurology, Department of Medicine, University of Malaya, , Lembah Pantai, 50603 Kuala Lumpur, Malaysia;2. Department of Biomedical Science, Faculty of Medicine, University of Malaya, , Kuala Lumpur, Malaysia |
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Abstract: | 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 |
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Keywords: | Charcot– Marie– Tooth disease genetics GJB1 MPZ PMP22 |
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