Case Report ARTICLE
SGCD Homozygous Nonsense Mutation (p.Arg97*) causing Limb-Girdle Muscular Dystrophy type 2 F (LGMD2F) in a Consanguineous Family, a case report
- 1State Key Laboratory of Membrane Biology and Beijing Key Laboratory of Cardiometabolic Molecular Medicine, Institute of Molecular Medicine and Peking-Tsinghua Center for Life Sciences and PKU-IDG/McGovern Institute for Brain Research, Peking University, China
- 2Department of Biochemistry, Faculty of Biological Sciences., Quaid-i-Azam University, Pakistan
- 3Department of Biochemistry and Biotechnology, University of Gujrat, Pakistan
- 4Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, King Saud bin Abdulaziz University for Health Sciences, Saudi Arabia
Background: Limb-girdle muscular dystrophy (LGMD) is an increasingly heterogeneous category of inherited muscle diseases, mainly affecting the muscles of shoulder areas and the hip, segregating in both autosomal recessive and dominant manner. To-date, thirty-one loci have been identified for LGMD including seven autosomal dominant (LGMD type 1) and twenty four autosomal recessive (LGMD type 2) inherited loci.
Methodology/ Laboratory Examination: The present report describes a consanguineous family segregating LGMD2F in an autosomal recessive pattern. The affected individual is an 11-year-old boy having two brothers and a sister. Direct targeted next generation sequencing was performed for the single affected individual (VI-1) followed by Sanger sequencing.
Results: Targeted next generation sequencing revealed a novel homozygous nonsense mutation (c.289C>T; p.Arg97*) in the exon 3 of the delta-sarcoglycan (SGCD) gene, that introduces a premature stop codon (TCA), resulting in a nonsense mediated decay or a truncated protein product.
Discussion and Conclusion: This is the first report of LGMD2F caused by an SGCD variant in a Pakistani population. The mutation identified in the present investigation extends the body of evidence implicating the gene SGCD in causing LGMD2F and might help in genetic counseling, which is more important to deliver the risk of carrier or affected in the future pregnancies.
Keywords: Limb-girdle muscular dystrophies, LGMD, SGCD, Biallelic variant, targeted NGS, LGMD2F
Received: 12 Jul 2018;
Accepted: 22 Dec 2018.
Edited by:Noor A. Shaik, King Abdulaziz University, Saudi Arabia
Reviewed by:Vishnu Hosur, Jackson Laboratory, United States
Preetha J. Shetty, Gulf Medical University, United Arab Emirates
Copyright: © 2018 Younus, Ahmad, Bilal, Rasheed, Abbas, Zeeshan, Sughra, Afroz, Alfadhel and Umair. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: PhD. Muhammad Umair, Quaid-i-Azam University, Department of Biochemistry, Faculty of Biological Sciences., Islamabad, Pakistan, email@example.com