Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans.
Dias, Alex Marcel Moreira
Nicastro, Fernanda Stávale
Mendes, Beatriz C. A.
Mingroni-Netto, Regina Célia
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Mutations in the CEACAM6 gene were first described as causing autosomal dominant nonsyndromic hearing loss, but two splice-altering variants have been recently described as causing autosomal recessive nonsyndromic hearing loss. We describe the novel and extremely rare loss-of-function variant c.436 C > T/p.(Arg146Ter) in the CEACAM16 gene segregating with post-lingual progressive autosomal recessive hearing loss. This variant is predicted to significantly reduce the size of the wild type protein. Our results give additional support that loss-of-function variants in CEACAM16 cause autosomal recessive hearing loss in humans.
J Hum Genet. 2019 Mar;64(3):257-260. doi: 10.1038/s10038-018-0546-4.
Antigens, CDCell Adhesion MoleculesDeafnessGPI-Linked ProteinsGenes, Recessive
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