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A Rare Mutation in the MARVELD2 Gene Can Cause Nonsyndromic Hearing Loss

Authors Sadeghi Z, Chavoshi Tarzjani SP, Miri Moosavi RS, Saber S, Ebrahimi A

Received 18 April 2020

Accepted for publication 10 July 2020

Published 27 July 2020 Volume 2020:13 Pages 291—296

DOI https://doi.org/10.2147/IMCRJ.S257654

Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 2

Editor who approved publication: Professor Ronald Prineas


Zahra Sadeghi,1,2 Seyedeh Parisa Chavoshi Tarzjani,1 Reyhaneh Sadat Miri Moosavi,2 Siamak Saber,2 Ahmad Ebrahimi2

1Department of Genetics, Tehran-North Branch, Islamic Azad University, Tehran, Iran; 2Jordan Medical and Genetic Laboratory, Tehran, Iran

Correspondence: Ahmad Ebrahimi
Jordan Medical and Genetic Laboratory, Tehran, Iran
Tel +98-912-4581801
Email ae35m@yahoo.com

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.

Keywords: MARVELD2 gene, nonsyndromic hearing loss, whole exome sequencing

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