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

International Medical Case Reports Journal

关键词: marveld2 gene;    nonsyndromic hearing loss;    whole exome sequencing;   

DOI  :  

来源: DOAJ

【 摘 要 】

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, IranCorrespondence: Ahmad EbrahimiJordan Medical and Genetic Laboratory, Tehran, IranTel [phone]Email [e-mail]: 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

【 授权许可】

Unknown