Old gene, new phenotype: Splicing altering variants in CEACAM16 cause recessive non-syndromic hearing impairment

CEACAM16 is an adhesion protein that plays a critical role in ensuring proper auditory function.  Defects in this protein have been linked to dominant hearing loss through a dominant-negative mechanism. Here we report that novel splice-altering variants in CEACAM16 gene are associated with autosomal recessive nonsyndromic hearing loss. Our findings broaden the pathogenic mechanisms of CEACAM16 to involve loss-of-function variants and expand its phenotypic spectrum to include recessive inheritance, thereby increasing our understanding of its contribution to human deafness. This knowledge directly impacts clinical interpretation and diagnosis for patients with hearing loss. (By Kevin T Booth, http://jmg.bmj.com/content/early/2018/04/26/jmedgenet-2018-105349)