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1- 1Narges Genetics Diagnostic Laboratory, Ahvaz, Iran-2Department of Genetics, Shahid Chamran University, Ahvaz, Iran
2- 1Narges Genetics Diagnostic Laboratory, Ahvaz, Iran
3- 1Narges Genetics Diagnostic Laboratory, Ahvaz, Iran-3Health Research Institute, Diabetes Research Center, Ahvaz Jundishapur University of medical Sciences, Ahvaz, Iran
4- 1Narges Genetics Diagnostic Laboratory, Ahvaz, Iran-4Department of Genetics, Ahvaz Jundishapur University of medical Sciences, Ahvaz, Iran
Abstract:  
Whole exome sequencing has been and will be increasingly utilized in genetic determinants of various inherited diseases. We identified a new variation in SERAC1 as the cause of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like (MEGDEL) syndrome using Whole Exome Sequencing (WES). At result we found an insertion (chr6, 158571484, C>CCATG), rs797045105 in SERAC1 gene with homozygous genotype in the patient and heterozygous genotype in her unaffected parents. Notably, bioinformatics analysis using mutation taster (prob>0.99) and DDIGin (prob=86.51) predicted this mutation as diseases causing. Also the variant isn’t present in our database including 700 exome files. These findings emphasize on pathogenicity of rs797045105 for MEGDEL syndrome. On the other hand our data shed light on significance of exome sequencing application as genetic test to identify and characterize the comprehensive spectrum of genetic variation and classification for the patients with neuro-metabolic disorders.
 
Type of Study: News and Reports | Subject: Cellular and molecular Neuroscience
Received: 2017/10/13 | Accepted: 2019/05/13

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