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Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression.

Advances in experimental medicine and biology - 1 Jan 2017

Szczałuba Krzysztof, Szymańska Krystyna, Kosińska Joanna, Pollak Agnieszka, Murcia Victor, Kędra Anna, Stawiński Piotr, Rydzanicz Małgorzata, Demkow Urszula, Płoski Rafał

Abstract excerpt

Biallelic mutations in the SPATA5 gene, encoding ATPase family protein, are an important cause of newly recognized epileptic encephalopathy classified as epilepsy, hearing loss, and mental retardation syndrome (EHLMRS, OMIM: 616577). Herein we describe a family in which two SPATA5 mutations with established pathogenicity (p.Thr330del and c.1714+1G>A) were found in the proband and her younger sister. The proband...

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PMID: 28293831
DOI: 10.1007/5584_2016_206

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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