Phenotypic spectrum of the recurrent <i>TRPM3</i> p.( <scp>Val837Met</scp> ) substitution in seven individuals with global developmental delay and hypotonia-Reference-Cited by-同舟云学术

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

Published:2022-02-10 Issue:6 Volume:188 Page:1667-1675
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Lines Matthew A.¹,Goldenberg Paula²,Wong Ashley²,Srivastava Siddharth³^ORCID,Bayat Allan⁴⁵^ORCID,Hove Hanne⁶,Karstensen Helena Gásdal⁷^ORCID,Anyane‐Yeboa Kwame⁸^ORCID,Liao Jun⁹,Jiang Nan⁹,May Alison¹⁰,Guzman Edwin¹¹,Morleo Manuela¹²¹³,D'Arrigo Stefano¹⁴,Ciaccio Claudia¹⁴^ORCID,Pantaleoni Chiara¹⁴^ORCID,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.²⁵^ORCID,

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

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62673

Reference24 articles.

1. TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

2. TRP channels as cellular sensors

3. Confirmation and Expansion of the Phenotype Associated with the Recurrent p.Val837Met Variant in TRPM3

4. De novo substitutions of TRPM3 cause intellectual disability and epilepsy

5. TRPM channels: same ballpark, different players, and different rules in immunogenetics

Cited by 10 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. Neurodevelopmental disorders caused by variants in TRPM3;Biochimica et Biophysica Acta (BBA) - Molecular Cell Research;2024-06

2. A Cataract-Causing Mutation in the TRPM3 Cation Channel Disrupts Calcium Dynamics in the Lens;Cells;2024-01-30

3. TRP channels as potential target molecules for pharmacotherapy of neurological diseases;TRP Channels as Therapeutic Targets;2024

4. TRPM3: An emerging pain target (and more);TRP Channels as Therapeutic Targets;2024

5. TRPM channels in health and disease;Nature Reviews Nephrology;2023-10-18