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Article

Intronic OTOF mutation causes an atypical splicing defect resulting in auditory neuropathy spectrum disorder.

Journal of genetics - 1 Jan 2023

Mohammadi Sanaz, Khamirani Hossein Jafari, Zoghi Sina, Dastgheib Seyed Alireza, Bagher Tabei Seyed Mohammad, Talebzadeh Mahdieh, Adibi Mohammad Hossein, Dianatpour Mehdi

Abstract excerpt

Pathogenic variants in OTOF cause auditory neuropathy spectrum disorder (ANSD), namely prelingual nonsyndromic ANSD and temperature-sensitive ANSD (TS-ANSD). All study subjects provided blood sample for genetic analysis and sequencing. Wholeexome sequencing was carried out to identify the causative pathogenic variant. RNAwas extracted to analyse the messenger RNA (mRNA) resulting from the transcription of OTOF....

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PMID: 36988134

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