TY - JOUR
T1 - Secondary findings from whole-exome sequencing data in families with familial combined hyperlipidemia (FCHL)
AU - Zakeri, Mana
AU - Safaiee, Mohammad Sadegh
AU - Taheri, Forough
AU - Taghizadeh, Eskandar
AU - Ferns, Gordon A.
AU - Mobarhan, Majid Ghayour
AU - Pasdar, Alireza
N1 - Acknowledgements
The 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.
PY - 2021/11/2
Y1 - 2021/11/2
N2 - 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.
AB - 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.
KW - Familial combined hyperlipidemia
KW - FCHL
KW - Secondary findings
KW - WES
UR - http://www.scopus.com/inward/record.url?scp=85118347220&partnerID=8YFLogxK
U2 - 10.1186/s43042-021-00195-4
DO - 10.1186/s43042-021-00195-4
M3 - Article
AN - SCOPUS:85118347220
VL - 22
JO - Egyptian Journal of Medical Human Genetics
JF - Egyptian Journal of Medical Human Genetics
SN - 1110-8630
M1 - 79
ER -