Quantifying the contribution of recessive coding variation to developmental disorders-Reference-Cited by-同舟云学术

Quantifying the contribution of recessive coding variation to developmental disorders

Published:2018-12-07 Issue:6419 Volume:362 Page:1161-1164
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Martin Hilary C.¹^ORCID,Jones Wendy D.¹²^ORCID,McIntyre Rebecca¹^ORCID,Sanchez-Andrade Gabriela¹,Sanderson Mark¹,Stephenson James D.¹³^ORCID,Jones Carla P.¹^ORCID,Handsaker Juliet¹^ORCID,Gallone Giuseppe¹^ORCID,Bruntraeger Michaela¹^ORCID,McRae Jeremy F.¹^ORCID,Prigmore Elena¹^ORCID,Short Patrick¹^ORCID,Niemi Mari¹^ORCID,Kaplanis Joanna¹,Radford Elizabeth J.¹⁴^ORCID,Akawi Nadia⁵^ORCID,Balasubramanian Meena⁶^ORCID,Dean John⁷^ORCID,Horton Rachel⁸,Hulbert Alice⁹,Johnson Diana S.⁶,Johnson Katie¹⁰^ORCID,Kumar Dhavendra¹¹,Lynch Sally Ann¹²^ORCID,Mehta Sarju G.¹³^ORCID,Morton Jenny¹⁴,Parker Michael J.¹⁵,Splitt Miranda¹⁶^ORCID,Turnpenny Peter D.¹⁷^ORCID,Vasudevan Pradeep C.¹⁸,Wright Michael¹⁶^ORCID,Bassett Andrew¹^ORCID,Gerety Sebastian S.¹^ORCID,Wright Caroline F.¹⁹^ORCID,FitzPatrick David R.²⁰^ORCID,Firth Helen V.¹¹³^ORCID,Hurles Matthew E.¹,Barrett Jeffrey C.¹^ORCID,

Affiliation:

1. Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.

2. Great Ormond Street Hospital for Children, National Health Service (NHS) Foundation Trust, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK.

3. European Molecular Biology Laboratory–European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SD, UK.

4. Department of Paediatrics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

5. Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.

6. Sheffield Clinical Genetics Service, Sheffield Children’s NHS Foundation Trust, OPD2, Northern General Hospital, Herries Rd., Sheffield, S5 7AU, UK.

7. Department of Genetics, Aberdeen Royal Infirmary, Aberdeen, UK.

8. Wessex Clinical Genetics Service, G Level, Princess Anne Hospital, Coxford Road, Southampton SO16 5YA, UK.

9. Cheshire and Merseyside Clinical Genetic Service, Liverpool Women’s NHS Foundation Trust, Crown Street, Liverpool L8 7SS, UK.

10. Department of Clinical Genetics, City Hospital Campus, Hucknall Road, Nottingham NG5 1PB, UK.

11. Institute of Cancer and Genetics, University Hospital of Wales, Cardiff, UK.

12. Temple Street Children’s Hospital, Dublin, Ireland.

13. Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

14. Clinical Genetics Unit, Birmingham Women’s Hospital, Edgbaston, Birmingham B15 2TG, UK.

15. Sheffield Clinical Genetics Service, Sheffield Children’s Hospital, Western Bank, Sheffield S10 2TH, UK.

16. Northern Genetics Service, Newcastle upon Tyne Hospitals, NHS Foundation Trust, Newcastle upon Tyne, UK.

17. Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.

18. Department of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary, Leicester LE1 5WW, UK.

19. University of Exeter Medical School, Institute of Biomedical and Clinical Science, Research, Innovation, Learning and Development (RILD), Royal Devon and Exeter Hospital, Barrack Road, Exeter, EX2 5DW, UK.

20. Medical Research Council (MRC) Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.

Abstract

Genetic architecture of developmental disorders The genetics of developmental disorders (DDs) is complex. Martin et al. wanted to determine the degree of recessive inheritance of DDs in protein-coding genes. They examined the exomes of more than 6000 families in populations with high and low proportions of consanguineous marriages. They found that 3.6% of DDs in individuals of European ancestry involved recessive coding disorders, less than a tenth of the levels previously estimated. Furthermore, among South Asians with high parental relatedness, rather than most of the disorders arising from inherited variants, fewer than half had a recessive coding diagnosis. Science , this issue p. 1161

Funder

Wellcome Trust

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference55 articles.

1. Large-scale discovery of novel genetic causes of developmental disorders

2. Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

3. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

4. Prevalence and architecture of de novo mutations in developmental disorders

5. Genetics of Early Onset Cognitive Impairment

Cited by 162 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The differential effects of common and rare genetic variants on cognitive performance across development;2024-09-04

2. Substantial role of rare inherited variation in individuals with developmental disorders;2024-08-29

3. A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants;Genes;2024-08-06

4. Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings;Nature Genetics;2024-07-22

5. Heterogenic Genetic Background of Distal Arthrogryposis—Review of the Literature and Case Report;Children;2024-07-16