Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.

assortative mating autism copy-number variant family history liability neurodevelopment pedigree phenotype polygenic risk variable expressivity

Journal

American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475

Informations de publication

Date de publication:
07 Dec 2023
Historique:
received: 17 05 2023
revised: 25 10 2023
accepted: 27 10 2023
pubmed: 19 11 2023
medline: 19 11 2023
entrez: 18 11 2023
Statut: ppublish

Résumé

We examined more than 97,000 families from four neurodevelopmental disease cohorts and the UK Biobank to identify phenotypic and genetic patterns in parents contributing to neurodevelopmental disease risk in children. We identified within- and cross-disorder correlations between six phenotypes in parents and children, such as obsessive-compulsive disorder (R = 0.32-0.38, p < 10

Identifiants

DOI: 10.1016/j.ajhg.2023.10.015 PMID: 37979581
pubmed: 37979581
pii: S0002-9297(23)00393-2
doi: 10.1016/j.ajhg.2023.10.015
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

2015-2028

Commentaires et corrections

Type : UpdateOf

Informations de copyright

Copyright © 2023 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of interests L.D. and J.J. are employees of GeneDx, LLC.

Auteurs

Corrine Smolen (C)

Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA.

Matthew Jensen (M)

Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA.

Lisa Dyer (L)

GeneDx, Gaithersburg, MD 20877, USA.

Lucilla Pizzo (L)

Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.

Anastasia Tyryshkina (A)

Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Neuroscience Graduate Program, Pennsylvania State University, University Park, PA 16802, USA.

Deepro Banerjee (D)

Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA.

Laura Rohan (L)

Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.

Emily Huber (E)

Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.

Laila El Khattabi (L)

Assistance Publique-Hôpitaux de Paris, Department of Medical Genetics, Armand Trousseau and Pitié-Salpêtrière Hospitals, Paris, France.

Paolo Prontera (P)

Medical Genetics Unit, Hospital "Santa Maria della Misericordia", Perugia, Italy.

Jean-Hubert Caberg (JH)

Centre Hospitalier Universitaire de Liège. Domaine Universitaire du Sart Tilman, Liège, Belgium.

Anke Van Dijck (A)

Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium.

Charles Schwartz (C)

Greenwood Genetic Center, Greenwood, SC 29646, USA.

Laurence Faivre (L)

Centre de Genetique et Cenre de Référence Anomalies du développement et syndromes malformatifs, Hôpital d'Enfants, CHU Dijon, Dijon, France; GAD INSERM UMR1231, FHU TRANSLAD, Université de Bourgogne Franche Comté, Dijon, France.

Patrick Callier (P)

Centre de Genetique et Cenre de Référence Anomalies du développement et syndromes malformatifs, Hôpital d'Enfants, CHU Dijon, Dijon, France; GAD INSERM UMR1231, FHU TRANSLAD, Université de Bourgogne Franche Comté, Dijon, France.

Anne-Laure Mosca-Boidron (AL)

Laboratoire de Genetique Chromosomique et Moleculaire, CHU Dijon, Dijon, France.

Mathilde Lefebvre (M)

GAD INSERM UMR1231, FHU TRANSLAD, Université de Bourgogne Franche Comté, Dijon, France.

Kate Pope (K)

Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.

Penny Snell (P)

Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.

Paul J Lockhart (PJ)

Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia; Bruce Lefroy Center, Murdoch Children's Research Institute, Melbourne, VIC, Australia.

Lucia Castiglia (L)

Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy.

Ornella Galesi (O)

Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy.

Emanuela Avola (E)

Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy.

Teresa Mattina (T)

Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy.

Marco Fichera (M)

Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy; Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy.

Giuseppa Maria Luana Mandarà (GM)

Medical Genetics, ASP Ragusa, Ragusa, Italy.

Maria Grazia Bruccheri (MG)

Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy.

Olivier Pichon (O)

CHU Nantes, Department of Medical Genetics, Nantes, France.

Cedric Le Caignec (C)

CHU Toulouse, Department of Medical Genetics, Toulouse, France; ToNIC, Toulouse Neuro Imaging, Center, Inserm, UPS, Université de Toulouse, Toulouse, France.

Radka Stoeva (R)

Service de Cytogenetique, CHU de Le Mans, Le Mans, France.

Silvestre Cuinat (S)

CHU Nantes, Department of Medical Genetics, Nantes, France.

Sandra Mercier (S)

CHU Nantes, Department of Medical Genetics, Nantes, France.

Claire Bénéteau (C)

CHU Nantes, Department of Medical Genetics, Nantes, France.

Sophie Blesson (S)

Department of Genetics, Bretonneau University Hospital, Tours, France.

Ashley Nordsletten (A)

Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA.

Dominique Martin-Coignard (D)

Department of Genetics, Bretonneau University Hospital, Tours, France.

Erik Sistermans (E)

Department of Clinical Genetics, Amsterdam UMC, Amsterdam, the Netherlands.

R Frank Kooy (RF)

Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium.

David J Amor (DJ)

Bruce Lefroy Center, Murdoch Children's Research Institute, Melbourne, VIC, Australia.

Corrado Romano (C)

Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy; Medical Genetics, ASP Ragusa, Ragusa, Italy.

Bertrand Isidor (B)

CHU Nantes, Department of Medical Genetics, Nantes, France.

Jane Juusola (J)

GeneDx, Gaithersburg, MD 20877, USA.

Santhosh Girirajan (S)

Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA; Neuroscience Graduate Program, Pennsylvania State University, University Park, PA 16802, USA; Department of Anthropology, Pennsylvania State University, University Park, PA 16802, USA. Electronic address: sxg47@psu.edu.

Classifications MeSH