De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability-Reference-Cited by-同舟云学术

De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability

Published:2015-06-15 Issue:10 Volume:167 Page:2231-2237
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Parker Michael J.¹,Fryer Alan E.²,Shears Deborah J.³,Lachlan Katherine L.⁴⁵,McKee Shane A.⁶,Magee Alex C.⁶,Mohammed Shehla⁷,Vasudevan Pradeep C.⁸,Park Soo-Mi⁹,Benoit Valérie¹⁰,Lederer Damien¹⁰,Maystadt Isabelle¹⁰,study DDD¹¹,FitzPatrick David R.¹²

Affiliation:

1. Sheffield Children's Hospital NHS Foundation Trust; Western Bank; Sheffield UK

2. Clinical Genetics Department; Alder Hey Children's NHS Foundation Trust; Liverpool UK

3. Department of Clinical Genetics, Churchill Hospital; Oxford University Hospitals NHS Trust; Oxford UK

4. Wessex Clinical Genetics Service; University Hospitals Southampton; Southampton UK

5. Human Genetics and Genomic Medicine; Faculty of Medicine, University of Southampton; Southampton UK

6. Department of Genetic Medicine; Belfast City Hospital; Belfast UK

7. Department of Clinical Genetics; Guy's and St. Thomas' Hospital NHS Trust; London UK

8. Department of Clinical Genetics, University Hospitals of Leicester NHS Trust; Leicester Royal Infirmary; Leicester UK

9. East Anglian Medical Genetics Service, Clinical Genetics; Cambridge University Hospitals NHS Foundation Trust; Cambridge UK

10. Centre de Génétique Humaine; Institut de Pathologie et de Génétique (I.P.G.); Gosselies (Charleroi) Belgium

11. DDD Study; Wellcome Trust Sanger Institute; Hinxton, Cambridge UK

12. MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine (I.G.M.M.); University of Edinburgh; UK

Funder

Health Innovation Challenge Fund

Wellcome Trust Sanger Institute

Cambridge South REC

Republic of Ireland REC

National Institute for Health Research

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37189/fullpdf

Reference22 articles.

1. Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency;Berryer;Hum Mutat,2013

2. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1;Carvill;Nat Genet,2013

3. Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses;Clement;Cell,2012

4. De novo autosomal dominant mutation in SYNGAP1;Cook;Autism Res,2011

5. Diagnostic exome sequencing in persons with severe intellectual disability;de Ligt;N Engl J Med,2012

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