The extremely rare nonsense mutation in the MARVELD2 gene results in deafness

A Chinese family from Hainan Province experienced non-syndromic hearing loss (NSHL). Peripheral venous blood samples were collected from 18 members of this family, and DNA was extracted for whole-exome genomic sequencing. The sequencing identified a mutation in the MARVELD2 gene. Four individuals in the family carried a nonsense mutation in MARVELD2, with one of them being homozygous and exhibiting severe hearing impairment. The NGS results were confirmed through Sanger sequencing.