LGMD2E is the most common type of sarcoglycanopathies in the Iranian population

Sarcoglycanopathies (SGCs) which are caused by mutations in <i>SGCA</i>, <i>SGCB</i>, <i>SGCG</i> or <i>SGCD</i> genes are a subgroup of autosomal-recessive limb-girdle-muscular-dystrophies (LGMD2). Although frequencies of mutations in these genes are different among populations, mutations in <i>SGCA</i> and <i>SGCD</i>, respectively, have the highest and lowest frequencies in most populations. Here, we report the proportion of mutations in SGC genes among a group of Iranian SGCs patients. Clinical features and results of SGC genes screening of 25 SGCs probands are presented. Large deletion mutations are confirmed with MLPA assays. In total, 15 candidate disease causing mutations were observed in the <i>SGCA</i>, <i>SGCB</i>, <i>SGCG</i> and <i>SGCD</i> genes; ten were novel. Fourteen (56%), seven (28%), three (12%) and one (4%) patient, respectively, carried mutations in <i>SGCB</i>, <i>SGCG</i>, <i>SGCD</i> and <i>SGCA</i>. The findings suggest that LGMD2E is the most common form of SGCs in the Iranian population and that LGMD2D is the rarest. Twelve LGMD2E cases carried the same mutation. To the best of knowledge, the mutation spectrum in SGCs is being reported for the first time in Iranian population. The finding will be beneficial for screening and genetic-counseling of SGCs patients in Iran.