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

Autor(es)

Moreira Dias, Alex Marcel ^[1] ; Lezirovitz, Karina ^{[2, 1]} ; Nicastro, Fernanda Stavale ^[3] ; Mendes, Beatriz C. A. ^[3] ; Mingroni-Netto, Regina Celia ^[1]

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo, Dept Genet & Biol Evolut, Inst Biociencias, Ctr Pesquisas Genoma Humano & Celulas Tronco, Sao Paulo - Brazil

^[2] Univ Sao Paulo, Fac Med, Hosp Clin, Lab Otorrinolaringol LIM32, Sao Paulo - Brazil

^[3] Pontificia Univ Catolica Sao Paulo, Divisdo Educ & Reabilitacao Disturbios Comun, Sao Paulo - Brazil

• Tipo de documento: Artigo Científico
• Fonte: JOURNAL OF HUMAN GENETICS; v. 64, n. 3, p. 257-260, MAR 2019.
• Citações Web of Science: 1

Resumo

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. (AU)

• Processo FAPESP: 13/08028-1 - CEGH-CEL - Centro de Estudos do Genoma Humano e de Células-Tronco
• Beneficiário: Mayana Zatz
• Linha de fomento: Auxílio à Pesquisa - Centros de Pesquisa, Inovação e Difusão - CEPIDs