Correlation between genotypes and phenotypes in pseudohypertrophic muscular dystrophy.
- Author:
Shan-wei FENG
1
;
Ying-yin LIANG
;
Ji-qing CAO
;
Xin-ming SONG
;
Cheng ZHANG
Author Information
- Publication Type:Journal Article
- MeSH: Dystrophin; genetics; Exons; Genetic Association Studies; Genotype; Humans; Muscular Dystrophy, Duchenne; diagnosis; genetics; Mutation; Phenotype
- From: Chinese Journal of Medical Genetics 2012;29(6):653-657
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the correlation between genotypes and phenotypes in Chinese patients with pseudohypertrophic muscular dystrophy.
METHODSPatients with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) were diagnosed clinically. Multiplex ligation-dependent probe amplification (MLPA) were performed to detect potential DMD gene mutations. The results were analyzed statistically.
RESULTSAmong 280 patients, 238(85.0%) were diagnosed with DMD, 35(12.50%) were diagnosed with BMD and 7(2.5%) were diagnosed with intermediate muscular dystrophin (IMD). Among these, 252(92.31%) were in-frame mutations, and 21(7.69%) were out-of-frame mutations. Twelve patients with DMD have carried in-frame mutations, 9 with BMD have carried frame-shift mutations, and 7 IMD patients have carried frame-shift mutation.
CONCLUSIONMost of the genotypes and phenotypes of DMD have complied with the reading-frame hypothesis. Patients with BMD with frame-shift mutations may facilitate understanding of the pathogenesis of DMD, and provide a theoretical basis for clinical therapy.
