SLC9A3R1 variant associated with age-related hearing loss

Age-related hearing loss (ARHL) is the most common sensory impairment in the elderly affecting millions of people worldwide. To shed light on the genetics of ARHL, a large cohort of 464 Italian patients has been deeply analyzed at clinical and molecular level. A missense variant in SLC9A3R1 has been identified in two unrelated ARHL patients. A knock-in zebrafish model confirmed the pathogenic effect of the variant.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001004171	The dataset contains one BAM file that includes a SLC9A3R1 variant identified in two Italian patients affected by age-related hearing loss. Data have been produced by targeted re-sequencing, using Ion Torrent PGM platform.	Ion Torrent PGM	1

Publications	Citations
Next Generation Sequencing and Animal Models Reveal <i>SLC9A3R1</i> as a New Gene Involved in Human Age-Related Hearing Loss. Girotto G, Morgan A, Krishnamoorthy N, Cocca M, Brumat M, Bassani S, La Bianca M, Di Stazio M, Gasparini P. Front Genet 10: 2019 142	7