Mutations involved in congenital heart disease identified in exosome of large patients cohort
December 2015
Columbia University Medical Center, New York, USA(1)
Harvard University, Boston, USA(2)
Icahn School of Medicine at Mount Sinai, New York, USA(3)
University of Pennsylvania, Philadelphia, USA(4)
Yale University, New Haven, USA(5)
Yale University School of Medicine, New Haven, USA(6)
Harvard University, Boston, USA(2)
Icahn School of Medicine at Mount Sinai, New York, USA(3)
University of Pennsylvania, Philadelphia, USA(4)
Yale University, New Haven, USA(5)
Yale University School of Medicine, New Haven, USA(6)
Newborns with congenital heart disease (CHD) have a greater risk of extra-cardiac congenital anomalies (CA) and neurodevelopmental disorders (NDD). In the present study, the researchers aimed at understanding better the genetic factors at play. The researchers performed exome sequencing on 1213 CHD parent-offspring trios and identified an excess of mutations in genes highly expressed in developing heart and brain and involved in morphogenesis, chromatin modification, and transcriptional regulation. The study details mutations common or specific to CHD, NDD, and CA. In conclusion, this study on a large patient cohort provides opportunities for improved prognostic assessment and early therapeutic intervention in CHD patients.
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
Wendy K. Chung(1), Christine E. Seidman(2), Bruce D. Gelb(3), Elizabeth Goldmuntz(4), Richard P. Lifton(5), Martina Brueckner(6)
Added on: 11-28-2021
[1] https://www.science.org/doi/10.1126/science.aac9396?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed[2] https://data.jrc.ec.europa.eu/dataset/20947a04-86ef-473f-8907-c658e4050c24
