Phenotypic spectrum of the recurrent TRPM3 p.( Val837Met ) substitution in seven individuals with global developmental delay and hypotonia

Author:

Lines Matthew A.1,Goldenberg Paula2,Wong Ashley2,Srivastava Siddharth3ORCID,Bayat Allan45ORCID,Hove Hanne6,Karstensen Helena Gásdal7ORCID,Anyane‐Yeboa Kwame8ORCID,Liao Jun9,Jiang Nan9,May Alison10,Guzman Edwin11,Morleo Manuela1213,D'Arrigo Stefano14,Ciaccio Claudia14ORCID,Pantaleoni Chiara14ORCID,Castello Raffaele12,McKee Shane15,Ong Jinfon16,Zibdeh‐Lough Hana17,Tran‐Mau‐Them Frederic18,Gerasimenko Anna19,Heron Delphine19,Keren Boris19,Margot Henri20,Sainte Agathe Jean‐Madeleine19,Burglen Lydie21,Voets Thomas2223,Vriens Joris24,Innes A. Micheil1,Dyment David A.25ORCID,

Affiliation:

1. Department of Medical Genetics and Alberta Children's Hospital Research Institute Cumming School of Medicine, University of Calgary Calgary Alberta Canada

2. Medical Genetics Unit, Department of Pediatrics MassGeneral Hospital for Children Boston Massachusetts USA

3. Department of Neurology Boston Children's Hospital Boston Massachusetts USA

4. Department of Epilepsy Genetics and Personalized Medicine Filadelfia Epilepsy Hospital Dianalund Denmark

5. Institute for Regional Health Services University of Southern Denmark Odense Denmark

6. Department of Pediatrics, Center of Rare Diseases Copenhagen University Hospital – Rigshospitalet Copenhagen Denmark

7. Department of Genetics, Center of Diagnostics Copenhagen University Hospital ‐ Rigshospitalet Rigshospitalet Denmark

8. Division of Clinical Genetics, Department of Pediatrics Columbia University Irving Medical Center New York New York USA

9. Department of Pathology and Cell Biology Columbia University Irving Medical Center New York New York USA

10. Division of Child Neurology, Department of Neurology Columbia University Irving Medical Center New York New York USA

11. Division of Clinical Genetics, Department of Pediatrics New York Presbyterian Hospital, Columbia University New York New York USA

12. Telethon Institute of Genetics and Medicine (TIGEM) Pozzuoli Italy

13. Department of Precision Medicine University of Campania “Luigi Vanvitelli” Naples Italy

14. Department of Pediatric Neuroscience Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

15. Northern Ireland Regional Genetics Service Belfast UK

16. Child Neurology Consultants of Austin Austin Texas USA

17. Department of Pediatrics Dell Children's Medical Center of Central Texas Austin Texas USA

18. UF6254 Innovation en Diagnostic Genomique des Maladies Rares Dijon France

19. APHP Sorbonne Université GH Pitié Salpêtriére et Trousseau, Département de Génétique, Centre de référence “déficiences intellectuelles de causes rares” Paris France

20. Universitie Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale Bordeaux France

21. APHP, Sorbonne Université, Hôpital TROUSSEAU, Centre de Référence des Malformations et Maladies Congénitales du Cervelet et Département de Génétique Paris France

22. Laboratory of Ion Channel Research and TRP Research Platform Leuven (TRPLe), Department of Cellular and Molecular Medicine University of Leuven Leuven Belgium

23. VIB Center for Brain & Disease Research Leuven Belgium

24. Laboratory of Experimental Gynecology and Obstetrics, Department of Development and Regeneration University of Leuven Leuven Belgium

25. Children's Hospital of Eastern Ontario Research Institute University of Ottawa Ottawa Canada

Funder

Fondazione Telethon

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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