A novel MYH9 mutation related to non-syndromic delayed post-lingual sensorineural hearing loss

Hearing loss (HL) is the most common sensory organ dysfunction disease. The cause is often complex, though genetics are the main factor.

In this study, we investigated a Chinese family with non-syndromic delayed post-lingual deafness. Comprehensive data collection was performed on this family's members, including basic information, audiological examinations, blood system examinations and imaging examinations. A pedigree diagram was drawn and the genetic patterns were analyzed.

A new gene mutation, c.314A>T:p.Y105F in the MYH9 exon, was confirmed by next generation sequencing and Sanger sequencing. This mutation co-segregated with the phenotype in the pedigree. Patients in this family present bilateral symmetry and gradual and delayed high-frequency sensorineural hearing loss. The age of onset was approximately 30 years old. Except for hearing loss, no lesions were seen in other organs, especially the blood system.

The identification and detection of a novel MYH9 mutation may be of great significance to provide the basis for gene function research and genetic consultation.