| Autor: |
Menglong, Feng, Kai, Zhou, Lancheng, Huang, Fengzhu, Tang, Shenhong, Qu, Qiutian, Lu, Ruichun, Chen, Fengti, Li |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 38(5) |
| ISSN: |
1003-9406 |
| Popis: |
To explore the genetic basis for a Chinese pedigree affected with non-syndromic hearing loss (NSHL).Commercialized gene chip was applied to detect common mutations associated with congenital deafness. Whole exome sequencing was carried out for patients for whom gene chip yielded a negative result. Candidate variants were verified by Sanger sequencing.Two patients from the pedigree were discovered to carry compound heterozygous variants of the TRIOBP gene, namely c.3299CA and c.5185-2AG. Their parents had normal hearing and were both heterozygous carriers of the above variants. Both variants had co-segregated with the disease phenotype in the pedigree and were unreported previously.Pathogenic variants of the TRIOBP gene comprise an important factor for NSHL. The novel c.5185-2AG and c.3299CA variants discovered in this study have enriched the mutational spectrum of the TRIOBP gene and enabled molecular diagnosis and genetic counseling for the family. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
|
