Novel Homozygous Missense Mutation in CAPN3 Gene Detected in a Saudi Arabian Family With Limb-Girdle Muscular Dystrophy Type 2A.

Talal M Al-Harbi, Sameeh O Abdulmanaʼ, Walid Dridi

Journal of clinical neuromuscular disease 2016 Dec

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More than 300 mutations were identified in Calpainopathy (CAPN3) gene in limb-girdle muscular dystrophy type 2A (LGMD2A) patients. LGMD2A type is also known as Calpainopathy, which is characterized by selective atrophy and weakness of proximal limb muscles. We report a Saudi Arabian family with weakness in limb-girdle distribution: waddling gait, positive Gowers' sign, and marked muscle atrophy in the shoulder and pelvic girdle muscles. We sequenced all exonic and intronic regions of the CAPN3 gene and identified c.1699 G>A variant as a novel variant not previously described in other patients. In silico predictions indicate that this is probably a disease-causing mutation. Here, for the first time, we report this c.1699 G>A new variant in the CAPN3 gene that can be considered as a robust genetics factor causing LGMD2A disease.

Citation

Talal M Al-Harbi, Sameeh O Abdulmanaʼ, Walid Dridi. Novel Homozygous Missense Mutation in CAPN3 Gene Detected in a Saudi Arabian Family With Limb-Girdle Muscular Dystrophy Type 2A. Journal of clinical neuromuscular disease. 2016 Dec;18(2):89-91