| Autor: |
Wei, Lan, Hou, Ling, Ying, Yan-Qin, Luo, Xiao-Ping |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Pharmacogenomics and Personalized Medicine |
| ISSN: |
1178-7066 |
| DOI: |
10.2147/pgpm.s341172 |
| Popis: |
Background Perrault syndrome (PRLTS) is a rare autosomal recessive disorder characterized by sensorineural hearing loss in both sexes and ovarian dysfunction in females. In some cases, patients present with a diversity of neurological signs. Six genes are known to cause Perrault syndrome. Case Report We report an 11-year-old Chinese girl with delayed gonadal development, sensorineural hearing loss, and neurologic manifestations. Genetic etiology was identified by whole-exome sequencing and confirmed via Sanger sequencing. Compound heterozygous variants with one novel variant c.1752C>A (p.D584E) and one known pathogenic variant c.1172G>A (p.R391H) in TWNK were discovered in the child and inherited from her parents, respectively. Conclusion The compound heterozygous variants c.1172G>A (p.R391H) and c.1752C>A (p.D584E) of the TWNK gene probably underlie PRLTS type 5 (PRLTS5). This study expands the mutation spectrum of TWNK pathogenicity in the PRLTS5 phenotype. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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