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

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 pres...

Full description

Saved in:
Bibliographic Details
Published in:Muscle & nerve 2014-02, Vol.49 (2), p.198-201
Main Authors: Shahrizaila, Nortina, Samulong, Sarimah, Tey, Shelisa, Suan, Liaw Chiew, Meng, Lao Kah, Goh, Khean Jin, Ahmad-Annuar, Azlina
Format: Article
Language:English
Subjects:
Adult
Asian People - ethnology
Asian People - genetics
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Disease - epidemiology
Charcot-Marie-Tooth Disease - ethnology
Charcot-Marie-Tooth Disease - genetics
China - ethnology
Cohort Studies
Connexins - genetics
Female
Gap Junction beta-1 Protein
Genetic Testing
genetics
GJB1
GTP Phosphohydrolases - genetics
Humans
India - ethnology
Malaysia - epidemiology
Male
Mitochondrial Proteins - genetics
MPZ
Mutation
Myelin P0 Protein - genetics
Myelin Proteins - genetics
Patients
PMP22
Point Mutation - genetics
Prevalence
Retrospective Studies
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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
ISSN:0148-639X
1097-4598
DOI:10.1002/mus.23892