Rare mutation in the MARVELD2 gene in one Iranian family with Nonsyndromic Hearing Loss based on Next Generation Sequencing

Background: Around 100 genes are responsible for Nonsyndromic Hearing Loss (NSHL). Many of which have been found to cause deafness in only one or two families. The MARVELD2 gene which is located on 5q13.2, can causes NSHL Autosomal Recessive inherited pattern. The IVS4 + 1G > A variant is reported as the one of pathogenic variant in an Iranian family.Case report and Methods: A 21-year-old, Iranian woman who has NSHL referred to our Genetic Lab to genetic consultation. Her parents had consanguineous marriage and they are healthy person (audiometry were normal). To study the responsible genes for mentioned disorder Whole Exome Sequencing (WES) was performed. The result of WES analysis was revealed a splice donor variant (exon4) in MARVELD2 gene (IVS4 + 1G > A). The result was confirmed by Sanger sequencing. According to NCBI database this variant was known as pathogenic with MAF= 0.00002 which had been reported previously in one Pakistani family in 2008. The prevalence of new genetic variant was assessed in 100 healthy ethnically matched group.Conclusions: in this study one of the rare mutations in NSHL was reported for the first time in Iranian population. Regards to our study this variant related to NSHL. Although these gene variants are very rare but it considered in NGS genes panel of NSHL.

Keywords:

MARVELD2 gene , Nonsyndromic hearing loss , Whole Exome Sequensing