Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss

This study confirms the involvement of loss-of-function mutations inCOCH in autosomal recessive nonsyndromic hearing loss, expands the mutational landscape of DFNB110 to include coding variants that alter RNA splicing, and highlights the need to investigate the effect of coding variants on RNA splicing.

Source: Human Genetics - June 18, 2020 Category: Genetics & Stem Cells Source Type: research