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A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family.

Genes - 12 Mar 2021

Lachgar María, Morín Matías, Villamar Manuela, Del Castillo Ignacio, Moreno-Pelayo Miguel Ángel

Abstract excerpt

Nonsyndromic hereditary hearing loss is a common sensory defect in humans that is clinically and genetically highly heterogeneous. So far, 122 genes have been associated with this disorder and 50 of them have been linked to autosomal dominant (DFNA) forms like DFNA68, a rare subtype of hearing impairment caused by disruption of a stereociliary scaffolding protein (HOMER2) that is essential for normal hearing in...

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PMID: 33809266
DOI: 10.3390/genes12030411
PMCID: PMC8001007

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