Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes. Issue 10 (14th August 2020)

• Record Type: Journal Article
• Authors: Kuo, Chieh‐Wen; Hwu, Wuh‐Liang; Chien, Yin‐Hsiu; Hsu, Ching; Hung, Miao‐Zi; Lin, I‐Lin; Lai, Feipei; Lee, Ni‐Chung
• Is Part Of: Molecular genetics & genomic medicine. Volume 8:Issue 10(2020)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2020-08-14
• Subjects: incidental finding -- Taiwanese -- whole‐exome sequencing; Medical genetics -- Periodicals; Genomics -- Periodicals; 616.042
• DOI: 10.1002/mgg3.1455
• Languages: English
• ISSNs: 2324-9269

Abstract

Abstract: Background: Exome sequencing has recently become more readily available, and more information about incidental findings has been disclosed. However, data from East Asia are scarce. We studied the application of exome sequencing to the identification of pathogenic/likely pathogenic variants in the ACMG 59 gene list and the frequency of these variants in the Taiwanese population. Methods: This study screened 161 Taiwanese exomes for variants from the ACMG 59 gene list. The identified variants were reviewed based on information from different databases and the available literature and classified according to the ACMG standard guidelines. Results: We identified seven pathogenic/likely pathogenic variants in eight individuals, with five participants with autosomal recessive variants in one allele and three participants with autosomal dominant variants. Approximately 1.86% (3/161) of the Taiwanese individuals had a reportable pathogenic/likely pathogenic variant as determined by whole‐exome sequencing (WES), which was comparable to the proportions published previously in other countries. We further investigated the high carrier rate of rare variants in the ATP7B gene, which might indicate a founder effect in our population. Conclusion: This study was the first to provide Taiwanese population data of incidental findings and emphasized a high carrier rate of candidate pathogenic/likely pathogenic variants in the ATP7B gene. Abstract : This study was the first to study the frequency of reportable pathogenic/likely pathogenic variant in Taiwan, which was 1.86% in 161 individuals. In addition, a high carrier rate of candidate pathogenic/likely pathogenic variants in the ATP7B gene in Taiwan was also investigated in this study.