Analysis of COL1A1 gene variation and clinical prevention and treatment in patients with Van der Hoeve syndrome.
10.3760/cma.j.cn115330-20210110-00014
- VernacularTitle:Van der Hoeve综合征型耳聋患者
COL1A1基因变异分析及临床防治探讨
- Author:
Ai Ping HUANG
1
,
2
,
3
;
Song GAO
4
;
Sha Sha HUANG
1
,
2
,
5
;
Guo Jian WANG
1
,
2
,
5
;
Dong Yi HAN
1
,
2
,
5
;
Pu DAI
1
,
2
,
5
;
Yong Yi YUAN
1
,
2
,
5
Author Information
1. College of Otolaryngology Head and Neck Surgery, Chinese People's Liberation Army General Hospital, Chinese People's Liberation Army Medical School
2. National Clinical Research Center for Otolaryngologic Diseases
3. State Key Lab of Hearing Science, Ministry of Education, Beijing 100853, China Department of Otolaryngology, Children's Hospital of Hebei Province, Shijiazhuang 050030, Hebei Province, China.
4. Department of Otolaryngology, Joint Logistic Support Force 909th Hospital, Zhangzhou 363000, Fujian Province, China.
5. State Key Lab of Hearing Science, Ministry of Education, Beijing 100853, China.
- Publication Type:Journal Article
- MeSH:
Hearing;
Hearing Tests;
Humans;
Osteogenesis Imperfecta;
Retrospective Studies;
Stapes
- From:
Chinese Journal of Otorhinolaryngology Head and Neck Surgery
2021;56(12):1292-1299
- CountryChina
- Language:Chinese
-
Abstract:
Objective: To investigate the clinical phenotype, treatment and prevention of Van der Hoeve syndrome, and analyze the variation characteristics of its related gene COL1A1. Methods: Hearing and sequencing data of syndromic deafness patients who had undergone genetic testing for deafness at the Chinese People's Liberation Army General Hospital since January 2008 to October 2020 were retrospectively reviewed. The variation of the COL1A1 gene and return visits to traceable patients and families were summarized, the disease progress and clinical treatment effects were analyzed, and the prevention strategies were discussed. Results: A total of 7 patients with COL1A1 gene mutation underwent clinical intervention. The mutation sites were c.1342A>T (p.Lys448*), c.124C>T (p.Gln42*), c.249insG(p.Ala84*), c.668insC(p.Gly224*), c.2829+1G>C, c.1081C>T (p.Arg361*), c.1792C>T (p.Arg598*), of which c.1081C>T and c.1792C>T had been previously reported, and the remaining 5 were novo mutations that have not been reported. All the 7 probands underwent stapes implantation and received genetic counseling and prevention guidance. Conclusions: Van der Hoeve syndrome belongs to osteogenesis imperfecta type Ⅰ. The disease has high penetrance. Timely surgical intervention for hearing loss can improve the life quality in patients. Accurate genetic counseling and preimplantation genetic diagnosis can achieve the primary prevention for the disease.
