Identification of adhalin gene mutation in limb-girdle muscular dystrophy in Chinese

Objective: Limb-girdle muscular dystrophy (LGMD) is a group of severe genetic heterogeneity muscular diseases characterized by proximal muscular weakness of the pelvis and shoulder, affecting both male and female. This group of diseases involves four gene loci (13q12, 17q21,4q12,5q33). Up till now there is no research report about LGMD in Chinese. This study was intended to identify the pathogenic genes of LGMD in Chinese by mutation detecting.

Methods: The exons 2 and 3 of adhalin gene were analyzed in 13 Chinese LGMD patients and 20 controls by using PCR-SSCP and DNA sequencing.

Results: The R77C (Arg77Cys) missense mutation was found at the two alleles of a 9-year-old LGMD girl, which had not been found in the 40 wild type chromosomes. This is the first report on adhalin mutation that exists in LGMD in Chinese.

Conclusions: Our results suggest that adhalin gene is one of the predisposing genes in LGMD in Chinese.