Mutation spectrum of congenital heart disease in a consanguineous Turkish population

• Published in: Molecular genetics & genomic medicine Vol. 10; no. 6; pp. e1944 - n/a
• Main Authors: Dong, Weilai, Kaymakcalan, Hande, Jin, Sheng Chih, Diab, Nicholas S., Tanıdır, Cansaran, Yalcin, Ali Seyfi Yalim, Ercan‐Sencicek, A. Gulhan, Mane, Shrikant, Gunel, Murat, Lifton, Richard P., Bilguvar, Kaya, Brueckner, Martina
• Format: Journal Article
• Language: English
• Published: United States John Wiley & Sons, Inc 01.06.2022; John Wiley and Sons Inc; Wiley
• Subjects: Birth defects; Cardiovascular disease; Cardiovascular diseases; Congenital diseases; congenital heart disease; Consanguinity; Coronary artery disease; Defects; Exome Sequencing; Families & family life; Genes; Genetics; Genomes; Heart Defects, Congenital - genetics; Heart diseases; Heart rate; Humans; Mutation; Original; Population studies; Turkey; Womens health; Turkey; congenital heart disease; mutation; genetics; consanguinity

Backgrounds While many studies agree that consanguinity increases the rate of congenital heart disease (CHD), few genome analyses have been conducted with consanguineous CHD cohorts. Methods We recruited 73 CHD probands from consanguineous families in Turkey and used whole‐exome sequencing (WES) to...