TWNK variant in a family affected with Perrault syndrome].

ola Kala shared this article with you from Inoreader [Analysis of TWNK variant in a family affected with Perrault syndrome]. Μέσω pubmed: familial hearing los... Related Articles [Analysis of TWNK variant in a family affected with Perrault syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Jul 10;37(7):739-742 Authors: Chen Z, Tang S, Li H, Xu X, Lyu J Abstract OBJECTIVE: To explore the genetic etiology of two patients with Perrault syndrome (PRLTS) in a family. METHODS: Whole exome sequencing (WES) was carried out to screen potential variants within genomic DNA extracted from the proband. Suspected variants were validated by clinical data and results of Sanger sequencing. RESULTS: WES has identified two heterozygous variants of TWNK gene, namely c.1172G>A (p.Arg391His) and c.1844G>C (p.Gly615Ala). Sanger sequencing confirmed that the c.1172G>A (p.Arg391His), a known pathogenic variant, was derived from her father, while the c.1844G>C (p.Gly615Ala), a novel variant, was derived from her mother. Her brother, who was similarly affected, has carried the same compound heterozygous variants. CONCLUSION: The compound heterozygous variants c.1172G>A (p.Arg391His) and c.1844G>C (p.Gly615Ala) of the TWNK gene probably underlie PRLTS in the sib pair. The above results have facilitated genetic counseling and prenatal diagnosis for the affected family. PMID: 32619254 [PubMed - indexed for MEDLINE] View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.