Identification of rare missense variants in the BSN gene co-segregating with chronic otitis media in a consanguineous Pakistani family.
Ayesha YousafSairah YousafAsra S ShabbirRafia YousafSaima RiazuddinRehan S ShaikhRegie Lyn P Santos-CortezZubair M AhmedPublished in: Molecular genetics & genomic medicine (2024)
A deep intronic variant of BSN has been previously implicated in the etiology of childhood ear infections. Our study further supports a link between BSN-impaired function and ear infection and CSOM in children.