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

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 f...

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Detalles Bibliográficos
Autores principales: Sadeghi, Zahra, Chavoshi Tarzjani, Seyedeh Parisa, Miri Moosavi, Reyhaneh Sadat, Saber, Siamak, Ebrahimi, Ahmad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434373/
https://www.ncbi.nlm.nih.gov/pubmed/32884365
http://dx.doi.org/10.2147/IMCRJ.S257654
Descripción
Sumario: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.

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