【摘 要】
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Aims: Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder characterized by symmetrical and selective atrophy of the proximal limb muscles.It derives from defects in the
【机 构】
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Shanghai Children's Hospital, Shanghai Institute of Medical Genetics, Shanghai Jiao Tong University
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Aims: Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder characterized by symmetrical and selective atrophy of the proximal limb muscles.It derives from defects in the human CAPN3 gene, which encodes an intracellular calcium-activated neutral protease.To date, a number of distinct pathogenic mutations have been reported in patients throughout the world but not in the Chinese.Methods: We analyzed one Chinese nuclear family with one sporadic LGMD2A case and unaffected parents for calpain 3 mutations using whole genome sequencing and Sanger sequencing.Results: One novel nonsense mutation and one micro deletion resulting in skipping of 4 exons in CAPN3 gene were found in the proband.Further analysis has found that the patient got the nonsense mutation from her mother, while the micro deletion in CAPN3 came from her father.Conclusion: Our finding that compound inheritance of a rare nonsense mutation and a hypomorphic allele of CAPN3 causes Limb-girdle muscular dystrophy type 2A will be helpful in the molecular diagnosis of the disorder and genetic counseling.
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