Secondary findings from whole-exome sequencing data in families with familial combined hyperlipidemia (FCHL)

Egyptian Journal of Medical Human Genetics

Alireza Pasdar¹  Mana Zakeri¹  Mohammad Sadegh Safaiee²  Gordon A. Ferns³  Eskandar Taghizadeh⁴  Forough Taheri⁵  Majid Ghayour Mobarhan⁶ 

[1] Department of Biology, Tehran Medical Branch, Islamic Azad University;Department of Biology, Tehran North Branch, Islamic Azad University;Department of Medical Education, Brighton and Sussex Medical School;Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences;Islamic Azad University (Shahrekord Branch);Metabolic Syndrome Research Centre, School of Medicine, Mashhad University of Medical Sciences;

关键词: Familial combined hyperlipidemia;    FCHL;    Secondary findings;    WES;   

DOI  :  10.1186/s43042-021-00195-4

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown