Mutation spectrum of congenital heart disease in a consanguineous Turkish population.

Weilai DongHande Kaymakcalan Sheng Chih JinNicholas S DiabCansaran TanıdırAli Seyfi Yalim YalcinA Gulhan Ercan-SencicekShrikant ManeMurat GunelRichard P LiftonKaya BilguvarMartina Brueckner

Published in: Molecular genetics & genomic medicine (2022)

Our WES screen of a Turkish consanguineous population with structural CHD revealed its unique genetic architecture. Six of seven damaging homozygous variants in CHD causal genes occur in the setting of laterality defects implies a strong contribution from consanguinity to these defects specifically. Our study thus provided valuable information about the genetic landscape of CHD in consanguineous families in Turkey.

Keyphrases

congenital heart disease
genome wide
copy number
single cell
high throughput
health information
social media