[Dysferlin deficiency: the cause of limb-girdle muscular dystrophy 2B and Miyoshi myopathy in a Chinese pedigree].
OBJECTIVE
To identify an inbred Chinese pedigree with autosomal recessive muscular dystrophy and analyze the molecular defects.


METHODS
Linkage analysis was conducted using short tandem repeat(STR) markers from the regions associated with limb-girdle muscular dystrophy type 2A(LGMD2A) through 2H. Multi-Western blot was performed with anti-calpain-3, anti-dysferlin, anti-gamma-sarcoglycan, anti-alpha-sarcoglycan, and anti-dystrophin monoclonal antibodies. Mutation was determined by reverse transcriptase-polymerase chain reaction and sequencing.


RESULTS
Two-point linkage analysis showed significant Lod scores with markers from chromosome 2p13, the highest two-point Lod scores were obtained with D2S337 (Z(max)=1.86 at theta=0). Multi-Western blot confirmed dysferlin deficiency of muscle specimen from the proband. Mutation analysis revealed a novel 6429delG mutation on exon 53 of the DYSF gene for the proband.


CONCLUSIONS
The authors identified an inbred Chinese pedigree with Miyoshi myopathy caused by a 6429delG on the DYSF gene. This mutation is predicted to result in premature termination of translation.
Sun
Shunchang
S
Department of Medical Laboratory Science, Ruijin Hospital, Shanghai Second Medical University, Shanghai, 200025 P.R.China. rjjyk@yahoo.com.cn
Fan
Qishi
Q
Wu
Huacheng
H
Leturcq
France
F
Zhang
Bingfeng
B
Yu
Wen
W
Deburgrave
Nathalie
N
Liu
Ming
M
Song
Yongjian
Y
D018076:DNA, Complementary / Q000737:chemistry; D000073939:Dysferlin; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics*; D009135:Muscular Diseases / Q000235:genetics*; D009136:Muscular Dystrophies / Q000235:genetics*; D009154:Mutation; D010375:Pedigree
D018076:DNA, Complementary; C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins