<p>A Rare Mutation in the <em>MARVELD</em>2 Gene Can Cause Nonsyndromic Hearing Loss</p>

Abstract

The MARVELD2 gene which is located on the 5q13.2 may cause nonsyndromic hearing loss (NSHL) with autosomal recessive inherited pattern. So far c.1331+1G>A ( IVS4+1G>A ); NM_001038603.3, variant in deafness, has only reported previously in one Pakistani family in 2008 and it is reported for the first time in Iran and second time in the world. The case is a 21-year-old Iranian woman who has NSHL referred for genetic consultation, and her parents had a consanguineous marriage. To study the responsible genes for the mentioned disorder, whole exome sequencing (WES) was performed for the case. The result of WES analysis revealed a transition at the splice donor variant site of the MARVELD2 gene. The NGS result was confirmed by Sanger sequencing.

Novel compound heterozygous variants in MARVELD2 causing autosomal recessive hearing loss in two Chinese families

“…So far, only a few cases of hearing loss related to MARVELD2 have been reported (Babanejad et al., 2012 ; Chishti et al., 2008 ; Mašindová et al., 2015 ; Nayak et al., 2015 ; Riazuddin et al., 2006 ; Sadeghi et al., 2020 ; Šafka Brožková et al., 2012 ; Taghipour‐Sheshdeh et al., 2019 ; Zheng et al., 2019 ). More cases of gene mutation need to be collected to understand its molecular mechanism.…”