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(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

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Author(s):
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
Affiliation:
[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
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. (AU)

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