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

Mana Zakeri; Mohammad Sadegh Safaiee; Forough Taheri; Eskandar Taghizadeh; Gordon A. Ferns; Majid Ghayour Mobarhan; Alireza Pasdar

doi:10.1186/s43042-021-00195-4

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

Mana Zakeri, Mohammad Sadegh Safaiee, Forough Taheri, Eskandar Taghizadeh, Gordon A. Ferns, Majid Ghayour Mobarhan, Alireza Pasdar^*

^*Corresponding author for this work

Applied Medicine

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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
Article number	79
Number of pages	5
Journal	Egyptian Journal of Medical Human Genetics
Volume	22
Early online date	2 Nov 2021
DOIs	https://doi.org/10.1186/s43042-021-00195-4
Publication status	Published - 2 Nov 2021

Keywords

Familial combined hyperlipidemia
FCHL
Secondary findings
WES

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

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.",

keywords = "Familial combined hyperlipidemia, FCHL, Secondary findings, WES",

author = "Mana Zakeri and Safaiee, {Mohammad Sadegh} and Forough Taheri and Eskandar Taghizadeh and Ferns, {Gordon A.} and Mobarhan, {Majid Ghayour} and Alireza Pasdar",

note = "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.",

year = "2021",

month = nov,

day = "2",

doi = "10.1186/s43042-021-00195-4",

language = "English",

volume = "22",

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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.

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JF - Egyptian Journal of Medical Human Genetics

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ER -

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

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