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.
摘要：
由SGCA突变引起的SGC病，SGCB,SGCG或SGCD基因是常染色体隐性遗传肢带肌营养不良（LGMD2）的一个亚组。尽管这些基因的突变频率在人群中不同，SGCA和SGCD中的突变，分别,在大多数人群中频率最高和最低。这里,我们报告了一组伊朗SGC患者中SGC基因突变的比例.介绍了25个SGC先证者的临床特征和SGC基因筛选结果。用MLPA测定确认大的缺失突变。总的来说,在SGCA中观察到15个候选致病突变，SGCB,SGCG和SGCD基因；十个是新的。14（56%），七（28%），三名(12%)和一名(4%)患者，分别,在SGCB中携带突变，SGCG,SGCD和SGCA。研究结果表明，LGMD2E是伊朗人口中最常见的SGC形式，而LGMD2D是最罕见的。12例LGMD2E病例携带相同的突变。据我们所知,首次在伊朗人群中报道了SGC的突变谱。这一发现将有利于伊朗SGC患者的筛查和遗传咨询。
