en Cellular and molecular Neuroscience Cellular and molecular Neuroscience News and Reports News and Reports <div style="text-align: justify;"><strong>Introduction</strong>: Whole Exome Sequencing (WES) has been increasingly utilized in genetic determinants of various inherited diseases.<br> <strong>Methods</strong>: We applied WES for a patient presenting 3-Methylglutaconic Aciduria (MEG), Deafness (D), Encephalopathy (E), and Leigh-like (L) syndrome. Then Sanger sequencing was used for the detected variant validation.&nbsp;<br> <strong>Results</strong>: We found an insertion, rs797045105 (chr6, 158571484, C>CCATG), in the 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 disease-causing. Also, the variant was not present in our database, including 700 exome files.<br> <strong>Conclusion</strong>: These findings emphasize the pathogenicity of rs797045105 for MEGDEL syndrome. On the other hand, our data shed light on the significance of WES application as a genetic test to identify and characterize the comprehensive spectrum of genetic variation and classification for patients with neuro- metabolic disorders.</div> Whole-exome sequencing, rs797045105, SERAC1, MEGDEL 549 556 http://bcn.iums.ac.ir/browse.php?a_code=A-10-1236-1&slc_lang=en&sid=1 Mina Zamani zamani_m67@yahoo.com 13700319475328460029086 13700319475328460029086 No Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran. Tahereh Seifi t.seifi87@gmail.com 13700319475328460029087 13700319475328460029087 No Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran. Jawaher Zeighami zeighamij@yahoo.com 13700319475328460029088 13700319475328460029088 No Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran. Neda Mazaheri nmazahery@gmail.com 13700319475328460029089 13700319475328460029089 No Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran. Emad Jahangirnezhad emadjahan@gmail.com 13700319475328460029090 13700319475328460029090 No Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran. Minoo Gholamzadeh gholamzadeh_m88@yahoo.com 13700319475328460029091 13700319475328460029091 No Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran. Alireza Sedaghat alireza_sedaghat59@yahoo.com 13700319475328460029092 13700319475328460029092 No Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran. Gholamreza Shariati galehdari187@yahoo.com 13700319475328460029093 13700319475328460029093 Yes Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran. Hamid Galehdari galehdari187@yahoo.com 13700319475328460029094 13700319475328460029094 No Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.