Expanding the genetic landscape of MYO15A: Discovery of a novel splice-region variant in an Iranian family and insights into splicing variants.
BACKGROUND Variants in MYO15A are an important cause of autosomal recessive non-syndromic sensorineural hearing loss (DFNB3). Non-canonical splicing variants remain challenging to interpret without transcript-level evidence. METHODS We investigated a consanguineous Iranian family affected by congenital profound non-s...