Progress in research on syndromic deafness associated with variants of CREBBP gene
10.3760/cma.j.cn511374-20241120-00608
- VernacularTitle:CREBBP基因变异相关综合征性耳聋的研究进展
- Author:
Mingjing LIANG
1
;
Xiuhong PANG
Author Information
1. 南京医科大学附属泰州人民医院耳鼻咽喉-头颈外科，泰州 225300
- Publication Type:Journal Article
- Keywords:
CREBBP gene;
Variant;
Syndromic deafness;
Menke-Hennekam syndrome;
Rubinstein-Taybi syndrome
- From:
Chinese Journal of Medical Genetics
2025;42(3):368-374
- CountryChina
- Language:Chinese
-
Abstract:
CREBBP gene encodes the transcriptional co-activator CREB-binding protein. This protein can participate in cell growth, differentiation and development through a variety of signal transduction pathways. Variants in this gene may cause syndromic deafness by affecting signal transduction pathways and development of skeletal and nervous systems. This review has summarized the structure and function of the CREBBP gene and the pathogenetic mechanism of syndromic deafness caused by CREBBP gene variants, with an aim to provide a basis for clinical diagnosis and treatment.
