A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II
Joint Authors
Qiu, Yue
Chen, Sen
Xie, Le
Xu, Kai
Bai, Xue
Zhang, Hui-Min
Liu, Xiao-Zhou
Sun, Yu
Kong, Wei-Jia
Jin, Yuan
Xie, Wen
Wang, Xiao-Hui
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-08-28
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
Waardenburg syndrome (WS), also known as auditory-pigmentary syndrome, is the most common cause of syndromic hearing loss.
It is responsible for 2–5% of congenital deafness.
WS is classified into four types depending on the clinical phenotypes.
Currently, pathogenic mutation of PAX3, MITF, EDNRB, EDN3, SNAI2, or SOX10 can cause corresponding types of WS.
Among them, SOX10 mutation is responsible for approximately 15% of type II WS or 50% of type IV WS.
We report the case of a proband in a Chinese family who was diagnosed with WS type II.
Whole exome sequencing (WES) of the proband detected a novel heterozygous spontaneous mutation: SOX10 c.246delC.
According to analysis based on nucleic acid and amino acid sequences, this mutation may produce a truncated protein, with loss of the HMG structure domain.
Therefore, this truncated protein may fail to activate the expression of the MITF gene, which regulates melanocytic development and plays a key role in WS.
Our finding expands the database of SOX10 mutations associated with WS and provides more information regarding the molecular mechanism of WS.
American Psychological Association (APA)
Chen, Sen& Jin, Yuan& Xie, Le& Xie, Wen& Xu, Kai& Qiu, Yue…[et al.]. 2020. A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II. Neural Plasticity،Vol. 2020, no. 2020, pp.1-8.
https://search.emarefa.net/detail/BIM-1203180
Modern Language Association (MLA)
Chen, Sen…[et al.]. A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II. Neural Plasticity No. 2020 (2020), pp.1-8.
https://search.emarefa.net/detail/BIM-1203180
American Medical Association (AMA)
Chen, Sen& Jin, Yuan& Xie, Le& Xie, Wen& Xu, Kai& Qiu, Yue…[et al.]. A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II. Neural Plasticity. 2020. Vol. 2020, no. 2020, pp.1-8.
https://search.emarefa.net/detail/BIM-1203180
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1203180