Case report: A novel nonsense mutation in the MARVELD2 gene causes nonsyndromic hearing loss in a China family

The <i>MARVELD2</i> gene is located on chromosome 5q13.2 and is associated with autosomal recessive nonsyndromic hearing loss (OMIM: # 610572). In this study, we identified and reported a novel nonsense mutation in <i>MARVELD2</i> c. 663G > A in a Chinese family. We collected peripheral venous blood from 19 members of the affected family and performed whole exome sequencing to analyze the mutation genotype. A single-nucleotide mutation was detected in <i>MARVELD2</i>. Five individuals in the family carried the <i>MARVELD2</i> c.663G>A mutation; one of them was homozygous and showed severe congenital deafness and language impairment. The next-generation sequencing results were validated by Sanger sequencing. This study expands the spectrum of <i>MARVELD2</i> mutations that cause nonsyndromic hearing loss and provides insights into the molecular pathogenesis underlying deafness. This finding has important implications for genetic screening, diagnosis, counseling, and research of deafness-related genes.