Abstract
Background: During the interpretation of genome sequencing data, some types of secondary findings are identified that are located in genes that do not appear to be related to the causes of the primary disease. Although these are not the primary targets for evaluation, they have a high risk for some diseases different from the primary disease. Therefore, they can be vital for preventing and intervention from such disease. Results: Here, we analyzed secondary findings obtained from WES in 6 families with FCHL disease who had an autosomal-dominant pattern based on their pedigrees. These finding are found in CDKAL1, ITGA2, FAM111A, WNK4, PTGIS, SCN10, TBX20, DCHS1, ANK2 and ABCA1 genes. Conclusions: Secondary findings are very important and must be considered different variants from sequencing results in a diagnostic setting. Although we have considered these variants as secondary findings, some of them may be related to the primary disease.
Original language | English |
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Article number | 79 |
Number of pages | 5 |
Journal | Egyptian Journal of Medical Human Genetics |
Volume | 22 |
Early online date | 2 Nov 2021 |
DOIs | |
Publication status | Published - 2 Nov 2021 |
Bibliographical note
AcknowledgementsThe grant of this study was paid by Mashhad University of Medical Sciences, Mashhad, Iran.
Funding
This study was funded by Mashhad University of Medical Sciences.
Keywords
- Familial combined hyperlipidemia
- FCHL
- Secondary findings
- WES