Unknown

Dataset Information

0

A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II.

ABSTRACT: 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.

SUBMITTER: Chen S 

PROVIDER: S-EPMC7474791 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

A Novel Spontaneous Mutation of the <i>SOX10</i> Gene Associated with Waardenburg Syndrome Type II.

Chen Sen S   Jin Yuan Y   Xie Le L   Xie Wen W   Xu Kai K   Qiu Yue Y   Bai Xue X   Zhang Hui-Min HM   Liu Xiao-Zhou XZ   Wang Xiao-Hui XH   Kong Wei-Jia WJ   Sun Yu Y  

Neural plasticity 20200828

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 <i>PAX3</i>, <i>MITF</i>, <i>EDNRB</i>, <i>EDN3</i>, <i>SNAI2</i>, or <i>SOX10</i> can cause corresponding types of WS. Among them, <i>SOX10</i> mutation is responsible for approximately 15% of type II WS or 50% of type I  ...[more]

Similar Datasets

Unknown Waardenburg syndrome type II in a Chinese pedigree caused by frameshift mutation in the SOX10 gene.
| S-EPMC8217986 | biostudies-literature
Unknown A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome.
| S-EPMC7522263 | biostudies-literature
Unknown A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4.
| S-EPMC5269737 | biostudies-literature
Unknown The Waardenburg syndrome type 4 gene, SOX10, is a novel tumor-associated antigen identified in a patient with a dramatic response to immunotherapy.
| S-EPMC2561957 | biostudies-literature
Unknown Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4.
| S-EPMC3421117 | biostudies-literature
Unknown Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2.
| S-EPMC3407046 | biostudies-literature
Unknown Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation.
| S-EPMC8451132 | biostudies-literature
Unknown Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.
| S-EPMC1378013 | biostudies-other
Unknown A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I.
| S-EPMC6625151 | biostudies-literature
Unknown Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.
| S-EPMC2276340 | biostudies-literature