Emad Jahangirnezhad

[ 1 ] - Identification of the rs797045105 in the SERAC1 gene by Whole-Exome Sequencing in a Patient Suspicious of MEGDEL Syndrome

Whole Exome Sequencing (WES) has been increasingly utilized in genetic determinants of various inherited diseases. We identified a new variation in SERAC1 as the cause of 3-Methylglutaconic Aciduria (MEG), Deafness (D), Encephalopathy (E), and Leigh-like (L), MEGDEL syndrome using WES. We found an insertion, rs797045105 (chr6, 158571484, C>CCATG), in the SERAC1 gene with homozygous genotype in ...