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X-LINKED CHARCOT-MARIE-TOOTH DISEASE PREDOMINATES IN A COHORT OF MULTIETHNIC MALAYSIAN PATIENTS
被引:8
作者:
Shahrizaila, Nortina
[1
]
Samulong, Sarimah
[2
]
Tey, Shelisa
[2
]
Suan, Liaw Chiew
[2
]
Meng, Lao Kah
[2
]
Goh, Khean Jin
[1
]
Ahmad-Annuar, Azlina
[2
]
机构:
[1] Univ Malaya, Dept Med, Div Neurol, Kuala Lumpur 50603, Malaysia
[2] Univ Malaya, Fac Med, Dept Biomed Sci, Kuala Lumpur 50603, Malaysia
关键词:
Charcot-Marie-Tooth disease;
genetics;
GJB1;
MPZ;
PMP22;
NEUROPATHY PATIENTS;
MUTATIONAL ANALYSIS;
TYPE-1;
PMP22;
GJB1;
POPULATION;
FREQUENCY;
FAMILIES;
SUBTYPES;
GENE;
D O I:
10.1002/mus.23892
中图分类号:
R74 [神经病学与精神病学];
学科分类号:
摘要:
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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页码:198 / 201
页数:4
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