Article
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.
Science (New York, N.Y.) - 4 Dec 2015
Homsy Jason, Zaidi Samir, Shen Yufeng, Ware James S, Samocha Kaitlin E, Karczewski Konrad J, DePalma Steven R, McKean David, Wakimoto Hiroko, Gorham Josh, Jin Sheng Chih, Deanfield John, Giardini Alessandro, Porter George A, Kim Richard, Bilguvar Kaya, López-Giráldez Francesc, Tikhonova Irina, Mane Shrikant, Romano-Adesman Angela, Qi Hongjian, Vardarajan Badri, Ma Lijiang, Daly Mark, Roberts Amy E, Russell Mark W, Mital Seema, Newburger Jane W, Gaynor J William, Breitbart Roger E, Iossifov Ivan, Ronemus Michael, Sanders Stephan J, Kaltman Jonathan R, Seidman Jonathan G, Brueckner Martina, Gelb Bruce D, Goldmuntz Elizabeth, Lifton Richard P, Seidman Christine E, Chung Wendy K
Abstract excerpt
Congenital heart disease (CHD) patients have an increased prevalence of extracardiac congenital anomalies (CAs) and risk of neurodevelopmental disabilities (NDDs). Exome sequencing of 1213 CHD parent-offspring trios identified an excess of protein-damaging de novo mutations, especially in genes highly expressed in the developing heart and brain. These mutations accounted for 20% of patients with CHD, NDD, and CA...
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