A Rare Mutation in the MARVELD 2 Gene Can Cause Nonsyndromic Hearing Loss.

Authors :: Sadeghi Z
Chavoshi Tarzjani SP
Miri Moosavi RS
Saber S
Ebrahimi A
Source :: International medical case reports journal [Int Med Case Rep J] 2020 Jul 27; Vol. 13, pp. 291-296. Date of Electronic Publication: 2020 Jul 27 (Print Publication: 2020).
Publication Year :: 2020
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&#95;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.<br />Competing Interests: The authors report no conflicts of interest in this work.<br /> (© 2020 Sadeghi et al.)