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Article

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss.

BMC medical genetics - 2 Dec 2017

Pollak Agnieszka, Lechowicz Urszula, Murcia Pieńkowski Victor Abel, Stawiński Piotr, Kosińska Joanna, Skarżyński Henryk, Ołdak Monika, Płoski Rafał

Abstract excerpt

BACKGROUND: Implementation of whole exome sequencing has provided unique opportunity for a wide screening of causative variants in genetically heterogeneous diseases, including nonsyndromic hearing impairment. TRIOBP in the inner ear is responsible for proper structure and function of stereocilia and is necessary for sound transduction. METHODS: Whole exome sequencing followed by Sanger sequencing was conducted...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29197352
DOI: 10.1186/s12881-017-0499-z
PMCID: PMC5712175

Genes

TRIOBP

Variants

Provenance

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Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss.PMID 29197352Read ↗

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