Progress in research on syndromic deafness associated with variants of CREBBP gene.
10.3760/cma.j.cn511374-20241120-00608
- Author:
Mingjing LIANG
1
,
2
;
Xiuhong PANG
Author Information
1. Department of Otolaryngology-Head and Neck Surgery, Taizhou People's Hospital Affiliated to Nanjing Medical University, Taizhou, Jiangsu 225300, China. pxhzxy@
2. com.
- Publication Type:English Abstract
- MeSH:
Humans;
CREB-Binding Protein/chemistry*;
Deafness/genetics*;
Mutation;
Animals;
Syndrome;
Signal Transduction
- 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.
