Nature Communications (Feb 2022)
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene
- Gudny A. Arnadottir,
- Asmundur Oddsson,
- Brynjar O. Jensson,
- Svanborg Gisladottir,
- Mariella T. Simon,
- Asgeir O. Arnthorsson,
- Hildigunnur Katrinardottir,
- Run Fridriksdottir,
- Erna V. Ivarsdottir,
- Adalbjorg Jonasdottir,
- Aslaug Jonasdottir,
- Rebekah Barrick,
- Jona Saemundsdottir,
- Louise le Roux,
- Gudjon R. Oskarsson,
- Jurate Asmundsson,
- Thora Steffensen,
- Kjartan R. Gudmundsson,
- Petur Ludvigsson,
- Jon J. Jonsson,
- Gisli Masson,
- Ingileif Jonsdottir,
- Hilma Holm,
- Jon G. Jonasson,
- Olafur Th. Magnusson,
- Olafur Thorarensen,
- Jose Abdenur,
- Gudmundur L. Norddahl,
- Daniel F. Gudbjartsson,
- Hans T. Bjornsson,
- Unnur Thorsteinsdottir,
- Patrick Sulem,
- Kari Stefansson
Affiliations
- Gudny A. Arnadottir
- deCODE Genetics/Amgen, Inc.
- Asmundur Oddsson
- deCODE Genetics/Amgen, Inc.
- Brynjar O. Jensson
- deCODE Genetics/Amgen, Inc.
- Svanborg Gisladottir
- Department of Genetics and Molecular Medicine, The National University Hospital of Iceland
- Mariella T. Simon
- Division of Metabolic Disorders, Children’s Hospital of Orange County
- Asgeir O. Arnthorsson
- deCODE Genetics/Amgen, Inc.
- Hildigunnur Katrinardottir
- deCODE Genetics/Amgen, Inc.
- Run Fridriksdottir
- deCODE Genetics/Amgen, Inc.
- Erna V. Ivarsdottir
- deCODE Genetics/Amgen, Inc.
- Adalbjorg Jonasdottir
- deCODE Genetics/Amgen, Inc.
- Aslaug Jonasdottir
- deCODE Genetics/Amgen, Inc.
- Rebekah Barrick
- Division of Metabolic Disorders, Children’s Hospital of Orange County
- Jona Saemundsdottir
- deCODE Genetics/Amgen, Inc.
- Louise le Roux
- deCODE Genetics/Amgen, Inc.
- Gudjon R. Oskarsson
- deCODE Genetics/Amgen, Inc.
- Jurate Asmundsson
- Department of Pathology, The National University Hospital of Iceland
- Thora Steffensen
- Department of Pathology, The National University Hospital of Iceland
- Kjartan R. Gudmundsson
- deCODE Genetics/Amgen, Inc.
- Petur Ludvigsson
- Children’s Hospital Iceland, The National University Hospital of Iceland
- Jon J. Jonsson
- Faculty of Medicine, University of Iceland
- Gisli Masson
- deCODE Genetics/Amgen, Inc.
- Ingileif Jonsdottir
- deCODE Genetics/Amgen, Inc.
- Hilma Holm
- deCODE Genetics/Amgen, Inc.
- Jon G. Jonasson
- Faculty of Medicine, University of Iceland
- Olafur Th. Magnusson
- deCODE Genetics/Amgen, Inc.
- Olafur Thorarensen
- Children’s Hospital Iceland, The National University Hospital of Iceland
- Jose Abdenur
- Division of Metabolic Disorders, Children’s Hospital of Orange County
- Gudmundur L. Norddahl
- deCODE Genetics/Amgen, Inc.
- Daniel F. Gudbjartsson
- deCODE Genetics/Amgen, Inc.
- Hans T. Bjornsson
- Faculty of Medicine, University of Iceland
- Unnur Thorsteinsdottir
- deCODE Genetics/Amgen, Inc.
- Patrick Sulem
- deCODE Genetics/Amgen, Inc.
- Kari Stefansson
- deCODE Genetics/Amgen, Inc.
- DOI
- https://doi.org/10.1038/s41467-022-28330-8
- Journal volume & issue
-
Vol. 13,
no. 1
pp. 1 – 9
Abstract
While the consequences of homozygous loss of function variants have been studied, the effect of missense variants is less understood. Here, the authors identify pathogenic genotypes through an observed deficit of homozygous carriers of missense variants in a population, elucidating previously unexplained recessive disease and miscarriage.
