Clinical delineation of thePACS1-related syndrome-Report on 19 patients-Reference-Cited by-同舟云学术

Clinical delineation of thePACS1-related syndrome-Report on 19 patients

Published:2016-02-03 Issue:3 Volume:170 Page:670-675
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Schuurs-Hoeijmakers Janneke H. M.¹,Landsverk Megan L.²,Foulds Nicola³⁴,Kukolich Mary K.⁵,Gavrilova Ralitza H.⁶⁷,Greville-Heygate Stephanie³⁴,Hanson-Kahn Andrea⁸⁹,Bernstein Jonathan A.⁹,Glass Jennifer¹⁰,Chitayat David¹¹¹²,Burrow Thomas A.¹⁰¹³,Husami Ammar¹⁰,Collins Kathleen¹⁰,Wusik Katie¹⁰,van der Aa Nathalie¹⁴,Kooy Frank¹⁴,Brown Kate Tatton¹⁵,Gadzicki Dorothea¹⁶,Kini Usha¹⁷,Alvarez Sara¹⁸,Fernández-Jaén Alberto¹⁹²⁰,McGehee Frank²¹,Selby Katherine²²²³,Tarailo-Graovac Maja²⁴,Van Allen Margot²⁵,van Karnebeek Clara D. M.²⁴,Stavropoulos Dimitri J.²⁶,Marshall Christian R.²⁶,Merico Daniele²⁷,Gregor Anne²⁸,Zweier Christiane²⁸,Hopkin Robert J.¹⁰,Chu Yoyo Wing-Yiu²⁹,Chung Brian Hon-Yin²⁹,de Vries Bert B. A.¹,Devriendt Koenraad³⁰,Hurles Matthew E.³¹,Brunner Han G.¹,

Affiliation:

1. Department of Human Genetics; Radboud University Medical Center; Nijmegen the Netherlands

2. Department of Pediatrics, Sanford School of Medicine; University of South Dakota, and Sanford Children's Health Research Center, Sanford Research, Sioux Falls; South Dakota

3. Wessex Clinical Genetics Services; University Hospital Southampton NHS Foundation Trust; Southampton United Kingdom

4. Faculty of Medicine; University of Southampton; Southampton United Kingdom

5. Clinical Genetics; Cook Children's Hospital; Fort Worth Texas

6. Department of Neurology; Mayo Clinic; Rochester Minnesota

7. Medical Genetics; Mayo Clinic; Rochester Minnesota

8. Department of Genetics; Stanford University School of Medicine; Stanford California

9. Department of Pediatrics; Stanford University School of Medicine; Stanford California

10. Division of Human Genetics; Cincinnati Children's Hospital Medical Center; Cincinnati Ohio

11. The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology; Mount Sinai Hospital, University of Toronto; Toronto Ontario Canada

12. Division of Clinical and Metabolic Genetics, The Hospital for Sick Children; University of Toronto; Toronto Ontario Canada

13. Department of Pediatrics; University of Cincinnati College of Medicine; Cincinnati Ohio

14. Department of Medical Genetics; University Hospital Antwerp; Antwerp Belgium

15. Southwest Thames Regional Genetics Centre; St George's Healthcare NHS Trust; London United Kingdom

16. MVZ Endokrinologikum Hannover; Hannover; Germany

17. Department of Clinical Genetics; Oxford University Hospitals NHS Trust; Oxford United Kingdom

18. NIMgenetics; Madrid; Spain

19. School of Medicine; European University of Madrid; Spain

20. Neuropediatric Department; “Quiron” University Hospital; Spain

21. Consultant; Cook Children's Physician Network

22. Child & family Research Institute, Department of Pediatrics; University of British Columbia; Vancouver British Columbia Canada

23. Division of Pediatric Neurology, Department of Pediatrics; B.C. Children's & Women's Hospital; Vancouver British Columbia Canada

24. Centre for Molecular Medicine and Therapeutics (TIDE-BC); Department of Pediatrics and Department of Medical Genetics; University of British Columbia; Vancouver British Columbia Canada

25. Child and family Research Institute; Department of Medical Genetics; University of British Columbia; Vancouver British Columbia Canada

26. Genome Diagnostics; Department of Paediatric Laboratory Medicine, the Hospital for Sick Children; Toronto Ontario Canada

27. The Centre for Applied Genomics; Genetics and Genome Biology, The Hospital for Sick Children; Toronto Ontario Canada

28. Institute of Human Genetics; Friedrich-Alexander-Universität Erlangen-Nürnberg; Erlangen Germany

29. Department of Paediatrics & Adolescent Medicine; Centre for Genomic Sciences; LKS Faculty of Medicine, the University of Hong Kong; Hong Kong

30. Centre for Human Genetics; KU Leuven, Leuven; Belgium

31. Human Genetics; Wellcome Trust Sanger Institute; Cambridge United Kingdom

Funder

Canadian Institutes of Health Research

Health Innovation Challenge Fund

Department of Health, and the Wellcome Trust Sanger Institute

National Institute for Health Research

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference5 articles.

1. Large-scale discovery of novel genetic causes of developmental disorders;Deciphering Developmental Disorders, Study;Nature

2. Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability;Gadzicki;Clin Genet,2014

3. Paternal age effect mutations and selfish spermatogonial selection: Causes and consequences for human disease;Goriely;Am J Hum Genet,2012

4. Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome;Schuurs-Hoeijmakers;Am J Hum Genet,2012

5. New evidence for positive selection helps explain the paternal age effect observed in achondroplasia;Shinde;Hum Mol Genet,2013

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1. iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity;Nature Communications;2024-01-27

2. Seizures in Schuurs–Hoeijmakers syndrome patients may resolve spontaneously: A case report from China;Seizure: European Journal of Epilepsy;2023-11

3. Genetic characterization of Schuurs-Hoeijmakers syndrome in a moroccan individual with heterozygote PACS1 mutation;Molecular Biology Reports;2023-09-25

4. Unexpected clinical features in an individual with Schuurs-Hoeijmakers syndrome;Clinical Dysmorphology;2023-06-16

5. Heart Disease Characterization and Myocardial Strain Analysis in Patients with PACS1 Neurodevelopmental Disorder;Journal of Clinical Medicine;2023-06-14