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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
Authors
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Authors Affiliations
  1. 1. Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
  2. 2. Pediatric Pathology Research Center, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  3. 3. Department of Neurology, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. Pediatric Neurology Center of Excellence, Department of Pediatric Neurology, Mofid Children Hospital, Faculty of Medicine, Shahid Beheshti Medical university, Tehran, Iran
  5. 5. Children's Medical Center, Tehran University of Medical Sciences, Iranian Epilepsy Association Board, Tehran, Iran
  6. 6. Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran

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.
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