Advanced search
Start date
(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

Full text
Moreira Dias, Alex Marcel [1] ; Lezirovitz, Karina [2, 1] ; Nicastro, Fernanda Stavale [3] ; Mendes, Beatriz C. A. [3] ; Mingroni-Netto, Regina Celia [1]
Total Authors: 5
[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
Total Affiliations: 3
Document type: Journal article
Source: JOURNAL OF HUMAN GENETICS; v. 64, n. 3, p. 257-260, MAR 2019.
Web of Science Citations: 1

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)

FAPESP's process: 13/08028-1 - CEGH-CEL - Human Genome and Stem Cell Research Center
Grantee:Mayana Zatz
Support type: Research Grants - Research, Innovation and Dissemination Centers - RIDC