Paternal-Age-Related de Novo Mutations and Risk for Five Disorders
Year: 2020
Type: article
Abstract: (Abstracted from Nat Comm 2019;10:3043) Epidemiologic associations have been made between advanced paternal age and increased offspring risk of autism spectrum disorder (ASD), schizophrenia (SCZ), congenital heart disease (CHD), epilepsy (EPI), and intellectual disability (ID). This association have been often attributed to de novo single nucleotide variants (dnSNVs) that occur 3 to 4 times more often in paternal compared with maternal germ cells.
Authors: Jacob L. Taylor, Jean-Christophe P. G. Debost, Sarah U. Morton, Emilie M. Wigdor, Henrike O. Heyne, Dennis Lal, Daniel P. Howrigan, Alex Bloemendal, Janne T. Larsen, Jack A. Kosmicki, Daniel J. Weiner, Jason Homsy, Jonathan G. Seidman, Christine E. Seidman, Esben Agerbo, John J. McGrath, Preben Bo Mortensen, Liselotte Petersen, Mark J. Daly, Elise B. Robinson
Institutions: Broad Institute, Brigham and Women's Hospital, Boston Children's Hospital, Howard Hughes Medical Institute, Harvard University, The University of Queensland, University of Cologne, Aarhus University, Park Centre for Mental Health, Aarhus University Hospital, Massachusetts General Hospital, Queensland Centre for Mental Health Research, Lundbeck Foundation, Stanley Center for Psychiatric Research
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W3006683753