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

Pathogenic variants in 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.