Kallmann syndrome with deafness caused by SOX10 mutation: Advances in research.
- Author:
Xi ZHOU
1
;
Wei-Wei LI
1
;
Qiu-Yue WU
1
;
Mao-Mao YU
1
;
Xin-Yi XIA
1
Author Information
1. PLA Research Institute of Clinical Laboratory Medicine, Jingling Hospital, Nanjing University School of Medicine / Nanjing General Hospital of Nanjing Military Region, Nanjing, Jiangsu 210002, China.
- Publication Type:Journal Article
- Keywords:
Kallmann syndrome;
deafness;
gene mutation;
SOX10
- MeSH:
Cell Differentiation;
Deafness;
genetics;
Gonadotropin-Releasing Hormone;
Humans;
Hypogonadism;
Kallmann Syndrome;
genetics;
Mutation;
genetics;
SOXE Transcription Factors;
genetics
- From:
National Journal of Andrology
2017;23(9):838-841
- CountryChina
- Language:Chinese
-
Abstract:
The transcription factor SOX10, as a major actor in the development of the neural crest, plays a key role in the maintenance of progenitor cell multipotency, lineage specification, and cell differentiation. Abnormalities of neural crest development in humans lead to a number of genetic diseases known as neurocristopathies or neural crest disorders. The mutation of SOX10 can cause Kallmann syndrome (KS), which is a clinically and genetically heterogeneous condition and defined by the association between anosmia and hypogonadotropic hypogonadism due to incomplete migration of neuroendocrine gonadotropin-releasing hormone (GnRH) cells along the olfactory, vomeronasal, and terminal nerves. Since then, there have been a number of related reports that mutation of SOX10 will lead to KS with deafness. This review focuses on the SOX10 gene and the advances in the diagnosis and genetic studies of KS with deafness caused by the mutatuin of SOX10.
