identification of the rs797045105 in the serac1 gene by whole-exome sequencing in a patient suspicious of megdel syndrome

Introduction: whole exome sequencing (wes) has been increasingly utilized in genetic determinants of various inherited diseases. methods: 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. results: 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. conclusion: 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.