title: Novel Homozygous Missense Mutation in CAPN3 Gene Detected in a Saudi Arabian Family With Limb-Girdle Muscular Dystrophy Type 2A.
abstract: 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.
authors.affiliation: *Neurology Department, Neuroscience Center, King Fahad Specialist Hospital-Dammam, Dammam, Saudi Arabia; and †Molecular Genetics Unit, Pathology and Laboratory Department, King Fahad Specialist Hospital-Dammam, Dammam, Saudi Arabia.
authors.forename: Talal M
authors.initials: TM
authors.lastname: Al-Harbi
authors.forename: Sameeh O
authors.initials: SO
authors.lastname: Abdulmanaʼ
authors.forename: Walid
authors.initials: W
authors.lastname: Dridi
mesh_terms: D002154:Calpain / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics*; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D012529:Saudi Arabia; D035781:Siblings; D055815:Young Adult
chemical_list: D009124:Muscle Proteins; C105884:CAPN3 protein, human; D002154:Calpain