Identification of the rs797045105 in the SERAC1 Gene by Whole-exome Sequencing in a Patient Suspicious of MEGDEL Syndrome.

ABSTRACT:

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 emphas

SUBMITTER: Zamani M 

PROVIDER: S-EPMC7878045 | biostudies-literature | 2020 Jul-Aug

REPOSITORIES: biostudies-literature