Whole-Exome Sequencing Reveals Pediatric Rare Syndromic Hearing Loss
10.12376/j.issn.2097-0501.2022.03.008
- VernacularTitle:应用全外显子组测序发现儿童罕见综合征耳聋
- Author:
Chunyan QU
1
;
Yi ZHOU
2
;
Min CHEN
2
;
Jinsheng HAO
2
;
Xin NI
2
;
Haihong LIU
3
Author Information
1. Children's Health Care Center, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China.
2. Department of Otorhinolaryngology Head and Neck Surgery, , National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China.
3. Beijing Pediatric Research Institute, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China.
- Publication Type:Journal Article
- Keywords:
whole-exome sequencing;
syndromic hearing loss;
HARS2;
USH2A;
GATA3;
MITF;
MYO15A
- From:
JOURNAL OF RARE DISEASES
2022;1(3):278-282
- CountryChina
- Language:Chinese
-
Abstract:
Objective To discuss the significance of genetic diagnosis of children with syndromic hearing loss by using whole-exome sequencing. Methods The clinical data of 34 children with sensorineural hearing loss were collected and the whole exons of genome of the children and their parents were sequenced and analyzed. Results Genetic causative gene and mutations have been identified in 19 children, including 4 genes (HARS2, USH2A, GATA3, MITF) related to rare syndromic hearing loss. Fifteen children were diagnosed with non-syndromic hearing loss related gene, including 8 cases with GJB2 mutation, 5 cases with SLC26A4 mutation and 2 cases with MYO15A mutation. Mutations of c.435_437del(p.K147del) and c.1403G > C (p.G468A) in gene HARS2, c.11389+1del in gene USH2A, c.1327delA(p.M443Wfs*33) in gene GATA3, c.627C > A(p.C209X) in gene MITF and c.8033_8057delinsG(p.N2678_D2686delinsS) in gene MYO15A were first reported. Conclusions Whole-exome sequencing helps the accurate diagnosis of causes of hearing loss, especially for the rare syndromic hearing loss with atypical clinical manifestations. Information from genetic testing may highlight further recommended exams of structure and functions of related organs.
