Mutation analysis of a Chinese family with autosomal dominant Emery-Dreifuss muscular dystrophy.
- VernacularTitle:一个常染色体显性遗传Emery-Dreifuss型肌营养不良家系的基因突变分析
- Author:
Jun-hui YUAN
1
;
Jing HU
;
Zhe ZHAO
;
Hong-rui SHEN
;
Na LI
;
Qi BING
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Asian Continental Ancestry Group; genetics; Base Sequence; Child; DNA Mutational Analysis; Female; Haplotypes; genetics; Heterozygote; Humans; Immunohistochemistry; Male; Muscular Dystrophy, Emery-Dreifuss; genetics; metabolism; pathology; physiopathology; Mutation; Pedigree; Phenotype
- From: Chinese Journal of Medical Genetics 2010;27(2):136-139
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the clinical, pathological and genetic characteristics in a family with autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD).
METHODSClinical data and skeletal muscle specimens were collected from two patients (the proband and her daughter) for pathological analysis. DNA samples of the proband and her family members (7 persons from 3 generations) were obtained for PCR amplification and direct DNA sequencing of the lamin A/C (LMNA) gene. Haplotype analysis was performed after the identification of mutation.
RESULTSThe proband had typical clinical manifestation of EDMD: joint contracture, progressive muscle weakness and atrophy and cardiac conduction dysfunction. Muscular pathology revealed myopathic changes combined with slight neuropathic changes. A heterozygous missense mutation 1583 (C to G)(T528R) was identified in exon 9 of the LMNA gene in the two patients, but not in other family members. Haplotype analysis indicated that the proband and her daughter shared the same causative haplotype.
CONCLUSIONThis is the first report of the phenotype and genotype of AD-EDMD in Chinese.
