A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II
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, ED...
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| Language: | English |
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Wiley
2020-01-01
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| Series: | Neural Plasticity |
| Online Access: | http://dx.doi.org/10.1155/2020/9260807 |
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| author | Sen Chen Yuan Jin Le Xie Wen Xie Kai Xu Yue Qiu Xue Bai Hui-Min Zhang Xiao-Zhou Liu Xiao-Hui Wang Wei-Jia Kong Yu Sun |
| author_facet | Sen Chen Yuan Jin Le Xie Wen Xie Kai Xu Yue Qiu Xue Bai Hui-Min Zhang Xiao-Zhou Liu Xiao-Hui Wang Wei-Jia Kong Yu Sun |
| author_sort | Sen Chen |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-db6e838ca8ed4540ae8bdbba461e3057 |
| institution | Kabale University |
| issn | 2090-5904 1687-5443 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Neural Plasticity |
| spelling | doaj-art-db6e838ca8ed4540ae8bdbba461e30572025-02-03T01:05:22ZengWileyNeural Plasticity2090-59041687-54432020-01-01202010.1155/2020/92608079260807A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type IISen Chen0Yuan Jin1Le Xie2Wen Xie3Kai Xu4Yue Qiu5Xue Bai6Hui-Min Zhang7Xiao-Zhou Liu8Xiao-Hui Wang9Wei-Jia Kong10Yu Sun11Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, ChinaDepartment of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, ChinaDepartment of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, ChinaDepartment of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, ChinaDepartment of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, ChinaDepartment of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, ChinaDepartment of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, ChinaDepartment of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, ChinaDepartment of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, ChinaDepartment of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, ChinaDepartment of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, ChinaDepartment of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, ChinaWaardenburg 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.http://dx.doi.org/10.1155/2020/9260807 |
| spellingShingle | Sen Chen Yuan Jin Le Xie Wen Xie Kai Xu Yue Qiu Xue Bai Hui-Min Zhang Xiao-Zhou Liu Xiao-Hui Wang Wei-Jia Kong Yu Sun A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II Neural Plasticity |
| title | A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II |
| title_full | A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II |
| title_fullStr | A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II |
| title_full_unstemmed | A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II |
| title_short | A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II |
| title_sort | novel spontaneous mutation of the sox10 gene associated with waardenburg syndrome type ii |
| url | http://dx.doi.org/10.1155/2020/9260807 |
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