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Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans.

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Date
2019-03
Author
Dias, Alex Marcel Moreira
Author
Lezirovitz, Karina
Author
Nicastro, Fernanda Stávale
Author
Mendes, Beatriz C. A.
Author
Mingroni-Netto, Regina Célia
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Artigo
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Abstract
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.
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J Hum Genet. 2019 Mar;64(3):257-260. doi: 10.1038/s10038-018-0546-4.
xmlui.dri2xhtml.METS-1.0.item-source-uri
https://doi.org/10.1038/s10038-018-0546-4
Subject
Antigens, CD
 
Cell Adhesion Molecules
 
Deafness
 
GPI-Linked Proteins
 
Genes, Recessive
 
URI
http://digital.bibliotecaorl.org.br/handle/forl/435
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Contact Us | Send Feedback

Divisão de Biblioteca e Documentação do Departamento
de Otorrinolaringologia da Faculdade de Medicina USP

Rua Artur de Azevedo, 46 CEP: 05404-000 São Paulo/SP - Brasil

Tel: (11) 3062-4097 Email: biblioteca@forl.org.br

Medicina USPFORL
Desenvolvido por Logo DGL Sistemas