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Article

Compound heterozygous variants in SPNS2 cause sensorineural hearing loss.

European journal of medical genetics - 1 Jan 2023

Mardani Saba, Almadani Navid, Garshasbi Masoud

Abstract excerpt

Hearing Loss (HL) is one of the most prevalent congenital diseases in humans and is etiologically highly heterogeneous. To date, over 360 genes have been identified that are involved in mouse or human deafness. SPNS2 is one of these genes that has been attributed to deafness in recent years. In this study, we identified two novel damaging variants of c.906G>A; p.(Trp302*) and c.487G>A; p.(Asp163Asn) in the SPNS2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36494063
DOI: 10.1016/j.ejmg.2022.104658

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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