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American Association for the Advancement of Science, Science, 6265(350), p. 1262-1266, 2015

DOI: 10.1126/science.aac9396

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De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

Journal article published in 2015 by Jason Homsy, Samir Zaidi, J. William Gaynor, Yufeng Shen, James S. Ware ORCID, Kaitlin E. Samocha ORCID, Konrad J. Karczewski ORCID, Steven R. DePalma, David McKean, Hiroko Wakimoto, Josh Gorham, Sheng Chih Jin, John Deanfield, Alessandro Giardini, George A. Porter and other authors.
This paper is available in a repository.
This paper is available in a repository.

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Abstract

Putting both heart and brain at risk For reasons that are unclear, newborns with congenital heart disease (CHD) have a high risk of neurodevelopmental disabilities. Homsy et al. performed exome sequence analysis of 1200 CHD patients and their parents to identify spontaneously arising (de novo) mutations. Patients with both CHD and neurodevelopmental disorders had a much higher burden of damaging de novo mutations, particularly in genes with likely roles in both heart and brain development. Thus, clinical genotyping of patients with CHD may help to identify those at greatest risk of neurodevelopmental disabilities, allowing surveillance and early intervention. Science , this issue p. 1262