Lgmd2e Is the Most Common Type of Sarcoglycanopathies in the Iranian Population Publisher Pubmed



Alavi A¹ ; Esmaeili S¹ ; Nilipour Y² ; Nafissi S³ ; Tonekaboni SH⁴ ; Zamani G⁵ ; Ashrafi MR⁶ ; Kahrizi K¹ ; Najmabadi H¹ ; Jazayeri F³
Source: Journal of Neurogenetics Published:2017

Abstract

Sarcoglycanopathies (SGCs) which are caused by mutations in SGCA, SGCB, SGCG or SGCD 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 SGCA and SGCD, 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 SGCA, SGCB, SGCG and SGCD genes; ten were novel. Fourteen (56%), seven (28%), three (12%) and one (4%) patient, respectively, carried mutations in SGCB, SGCG, SGCD and SGCA. 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. © 2017 Informa UK Limited, trading as Taylor & Francis Group.