[Mutation analysis of a Chinese family with autosomal dominant Emery-Dreifuss muscular dystrophy].
OBJECTIVE
To investigate the clinical, pathological and genetic characteristics in a family with autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD).


METHODS
Clinical 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.


RESULTS
The 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.


CONCLUSIONS
This is the first report of the phenotype and genotype of AD-EDMD in Chinese.
Yuan
Jun-hui
JH
Neuromuscular Laboratory, Department of Neuromuscular Disease, the Third Hospital of Hebei Medical University, Shijiazhuang, Hebei, P.R. China.
Hu
Jing
J
Zhao
Zhe
Z
Shen
Hong-rui
HR
Li
Na
N
Bing
Qi
Q
D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006239:Haplotypes / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics* / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009154:Mutation; D010375:Pedigree; D010641:Phenotype