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The contribution of the mitochondrial COI/tRNA(Ser(UCN)) gene mutations to non-syndromic and aminoglycoside-induced hearing loss in Polish patients.

Molecular genetics and metabolism - 1 Jan 2000

Rydzanicz Małgorzata, Cywińska Karolina, Wróbel Maciej, Pollak Agnieszka, Gawęcki Wojciech, Wojsyk-Banaszak Irena, Lechowicz Urszula, Mueller-Malesińska Małgorzata, Ołdak Monika, Płoski Rafał, Skarżyński Henryk, Szyfter Krzysztof, Szyfter Witold

Abstract excerpt

Mutations in mitochondrial DNA have been implicated in both, non-syndromic and aminoglycoside-induced hearing loss. In the present study, we have performed the systematic mutation screening of the COI/tRNA(Ser(UCN)) genes in 250 unrelated Polish subjects with hearing impairment. Three different homoplasmic sequence variants were identified, including one common polymorphism m.7476 C>T in tRNA(Ser(UCN)) and two...

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Identifiers

PMID: 21621438
DOI: 10.1016/j.ymgme.2011.05.004

Genes

UCN

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The contribution of the mitochondrial COI/tRNA(Ser(UCN)) gene mutations to non-syndromic and aminoglycoside-induced hearing loss in Polish patients.PMID 21621438Read ↗

Aminoglycoside-induced and non-syndromic hearing loss is associated with the G7444A mutation in the mitochondrial COI/tRNASer(UCN) genes in two Chinese families.Semantic proximity Read ↗

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