Identification of novel genes and functional studies in nonsyndromic deafness
| Full text | |
| 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 type: | Research Grants - Research, Innovation and Dissemination Centers - RIDC |