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Article

A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.

Hearing research - 1 Sept 2016

Hartel Bas P, Löfgren Maria, Huygen Patrick L M, Guchelaar Iris, Lo-A-Njoe Kort Nicole, Sadeghi Andre M, van Wijk Erwin, Tranebjærg Lisbeth, Kremer Hannie, Kimberling William J, Cremers Cor W R J, Möller Claes, Pennings Ronald J E

Abstract excerpt

OBJECTIVES: Usher syndrome is an inherited disorder that is characterized by hearing impairment (HI), retinitis pigmentosa, and in some cases vestibular dysfunction. Usher syndrome type IIa is caused by mutations in USH2A. HI in these patients is highly heterogeneous and the present study evaluates the effects of different types of USH2A mutations on the audiometric phenotype. Data from two large centres of...

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Identifiers

PMID: 27318125
DOI: 10.1016/j.heares.2016.06.008

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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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