Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.

ABSTRACT: Pathogenic variant in COCH are a known cause of DFNA9 autosomal dominant progressive hearing loss and vestibular dysfunction with adult onset. Hitherto, only dominant nonsynonymous variants and in-frame deletions with a presumed dominant negative or gain-of-function effect have been described. Here, we describe two brothers with congenital prelingual deafness and a homozygous nonsense c.292C>T(p.Arg98*) COCH variant, suggesting a loss-of-function effect. Vestibular dysfunction starting in the first decade was observed in the older patient. The heterozygous parents and sibling have normal hearing and vestibular function, except for the mother, who shows vestibular hyporeflexia and abnormal smooth pursuit tests, most likely due to concomitant disease. This is the first report of autosomal re

SUBMITTER: JanssensdeVarebeke SPF 

PROVIDER: S-EPMC5891501 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature