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Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants

Authors :
Corrine Smolen
Matthew Jensen
Lisa Dyer
Lucilla Pizzo
Anastasia Tyryshkina
Deepro Banerjee
Laura Rohan
Emily Huber
Laila El Khattabi
Paolo Prontera
Jean-Hubert Caberg
Anke Van Dijck
Charles Schwartz
Laurence Faivre
Patrick Callier
Anne-Laure Mosca-Boidron
Mathilde Lefebvre
Kate Pope
Penny Snell
Paul J. Lockhart
Lucia Castiglia
Ornella Galesi
Emanuela Avola
Teresa Mattina
Marco Fichera
Giuseppa Maria Luana Mandara
Maria Grazia Bruccheri
Olivier Pichon
Cedric Le Caignec
Radka Stoeva
Silvestre Cuinat
Sandra Mercier
Claire Beneteau
Sophie Blesson
Ashley Nordsletten
Dominique Martin-Coignard
Erik Sistermans
R. Frank Kooy
David J. Amor
Corrado Romano
Bertrand Isidor
Jane Juusola
Santhosh Girirajan
Source :
medRxiv
Publication Year :
2023
Publisher :
Cold Spring Harbor Laboratory, 2023.

Abstract

We examined more than 38,000 spouse pairs from four neurodevelopmental disease cohorts and the UK Biobank to identify phenotypic and genetic patterns in parents associated with neurodevelopmental disease risk in children. We identified correlations between six phenotypes in parents and children, including correlations of clinical diagnoses such as obsessive-compulsive disorder (R=0.31-0.49, p

Subjects

Subjects :
Article

Details

Language :
English
Database :
OpenAIRE
Journal :
medRxiv
Accession number :
edsair.doi.dedup.....16abc621e8896a2a8b4693832e9d8dc5