The Role of Cilia and the Complex Genetics of Congenital Heart Disease

• Published in: Annual review of genomics and human genetics Vol. 25; no. 1; pp. 309 - 327
• Main Authors: Gabriel, George C, Ganapathiraju, Madhavi, Lo, Cecilia W
• Format: Journal Article
• Language: English
• Published: United States Annual Reviews 01.08.2024
• Subjects: Animals; cilia; Cilia - genetics; Cilia - metabolism; Cilia - pathology; complex genetics; congenital heart disease; Heart Defects, Congenital - genetics; Heart Defects, Congenital - pathology; Humans; Mice; Mutation; Protein Interaction Maps; Signal Transduction; congenital heart disease; cilia; complex genetics

Congenital heart disease (CHD) can affect up to 1% of live births, and despite abundant evidence of a genetic etiology, the genetic landscape of CHD is still not well understood. A large-scale mouse chemical mutagenesis screen for mutations causing CHD yielded a preponderance of cilia-related genes,...