Lessons from two series by physicians and caregivers' self‐reported data in <i>DDX3X</i>‐related disorders-Reference-Cited by-同舟云学术

Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders

Published:2024-01 Issue:1 Volume:12 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Ruault Valentin¹²^ORCID,Burger Pauline³,Gradels‐Hauguel Johanna⁴,Ruiz Nathalie¹²,Jamra Rami Abou⁵,Afenjar Alexandra⁶,Alembik Yves⁷,Alessandri Jean‐Luc⁸,Arpin Stéphanie⁹,Barcia Giulia¹⁰,Bendová Šárka¹¹,Bruel Ange‐Line¹²¹³^ORCID,Charles Perrine¹⁴,Chatron Nicolas¹⁵¹⁶^ORCID,Chopra Maya¹⁷¹⁸,Conrad Solène¹⁹,Daire Valérie Cormier¹⁰,Cospain Auriane²⁰^ORCID,Coubes Christine¹²,Coursimault Juliette²¹,Delahaye‐Duriez Andrée²²²³²⁴,Doco Martine¹⁹²⁵,Dufour William¹⁵,Durand Benjamin⁷,Engel Camille²⁶,Faivre Laurence¹²²⁷^ORCID,Ferroul Fanny⁸,Fradin Mélanie²⁰²⁸,Frenkiel Hélène²⁹^ORCID,Fusco Carlo³⁰,Garavelli Livia³¹,Garde Aurore¹²²⁷,Gerard Bénédicte⁷,Germanaud David³²³³,Goujon Louise³²³³^ORCID,Gouronc Aurélie⁷,Ginglinger Emmanuelle³⁴,Goldenberg Alice²¹,Hancarova Miroslava¹¹^ORCID,Havlovicová Markéta¹¹,Heron Delphine³⁵,Isidor Bertrand¹⁹,Marçais Nolwenn Jean²⁰,Keren Boris³⁶,Koch‐Hogrebe Margarete³⁷,Kuentz Paul¹³²⁶^ORCID,Lamure Victoria²³,Lebre Anne‐Sophie²⁵³⁸,Lecoquierre François²¹,Lehman Natacha¹²^ORCID,Lesca Gaetan¹⁵¹⁶,Lyonnet Stanislas¹⁰³⁹,Martin Delphine²⁹,Mignot Cyril³⁶,Neuhann Teresa M.⁴⁰,Nicolas Gaël²¹,Nizon Mathilde¹⁹,Petit Florence⁴¹,Philippe Christophe¹²¹³,Piton Amélie⁷,Pollazzon Marzia³¹,Prchalová Darina¹¹,Putoux Audrey¹⁵⁴²,Rio Marlène¹⁰,Rondeau Sophie¹⁰,Rossi Massimiliano¹⁵⁴²^ORCID,Sabbagh Quentin¹²,Saugier‐Veber Pascale²¹,Schmetz Ariane³⁷^ORCID,Steffann Julie¹⁰,Thauvin‐Robinet Christel¹²¹³²⁷,Toutain Annick⁹,Them Frederic Tran Mau¹²¹³^ORCID,Trimarchi Gabriele³¹,Vincent Marie¹⁹,Vlčková Markéta¹¹^ORCID,Wieczorek Dagmar³⁷,Willems Marjolaine¹²^ORCID,Yauy Kevin¹²,Zelinová Michaela¹¹,Ziegler Alban⁴³^ORCID,Chaumette Boris⁴⁴⁴⁴⁵,Sadikovic Bekim⁴⁶⁴⁷,Mandel Jean‐Louis³⁴⁸,Geneviève David¹², ,

Affiliation:

1. Genetic Department Montpellier University, INSERM Unit 1183 Montpellier France

2. Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department Montpellier Hospital Montpellier France

3. Institute of Genetics and Molecular and Cellular Biology (IGBMC) Université de Strasbourg, INSERM U1258, CNRS UMR7104 Illkirch France

4. Center for Rare Psychiatric Disorders – GHU Paris Psychiatrie et Neurosciences – Paris – France APHP GHU Sainte Anne Paris France

5. Institute of Human Genetics University of Leipzig Medical Center Leipzig Germany

6. Département de Génétique Paris Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, APHP, Sorbonne Université Paris France

7. Service de Génétique Médicale Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg Strasbourg France

8. CHU La Réunion, Service de génétique Saint Denis France

9. Genetics Department University Hospital, UMR1253 iBrain INSERM, University of Tours Tours France

10. Service de Médecine Génomique des Maladies Rares Hôpital Necker – Enfants Malades, Assistance Publique‐Hôpitaux de Paris Paris France

11. Department of Biology and Medical Genetics Charles University Second Faculty of Medicine and University Hospital Motol Prague Czech Republic

12. Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares CHU Dijon Bourgogne Dijon France

13. UFR Des Sciences de Santé INSERM‐Université de Bourgogne UMR1231 GAD “Génétique des Anomalies du Développement”, FHUTRANSLAD Dijon France

14. APHP La Pitié Salpétrière Paris France

15. Department of Medical Genetics University Hospital of Lyon and Claude Bernard Lyon I University Lyon France

16. Pathophysiology and Genetics of Neuron and Muscle (PNMG) UCBL, CNRS UMR5261 – INSERM U1315 Lyon France

17. Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center Boston Children's Hospital Boston Massachusetts USA

18. Genetic Department Harvard Medical School Boston Massachusetts USA

19. Genetic Department CHU Nantes, Service de Génétique Nantes France

20. Genetic Department CHU Rennes, Service de Génétique, CLAD Ouest CRDI Rennes France

21. Department of Genetics and Reference Center for Developmental Disorders University of Rouen Normandie, Inserm U1245, CHU Rouen Rouen France

22. Medical Genomics and Clinical Genetics Unit AP‐HP, Hôpital Jean Verdier Bondy France

23. Genetic Department UFR SMBH, Université Sorbonne Paris Nord Paris France

24. Genetic Department Inserm 1141 NeuroDiderot Paris France

25. Centre Hospitalier Universitaire de Reims Pôle de Biologie Médicale et Pathologie, Service de Génétique Reims France

26. Oncobiologie Génétique Bioinformatique PC BIO, CHU Besançon Besançon France

27. Centre de Génétique et Centre de référence maladies rares « Anomalies du Développement et Syndromes Malformatifs », FHU TRANSLAD Hôpital d'Enfants, CHU Dijon Dijon France

28. CH Saint Brieuc, Service de Génétique Saint Brieux France

29. Xtraordinaire Association Paris France

30. Child Neurology and Psychiatry Unit Azienda USL‐IRCCS di Reggio Emilia Reggio Emilia Italy

31. Medical Genetics Unit Azienda USL‐IRCCS di Reggio Emilia Reggio Emilia Italy

32. Genetic Department CEA Paris‐Saclay, NeuroSpin Gif‐sur‐Yvette France

33. Département de Génétique Centre de référence Déficiences intellectuelles de causes rares, Assistance publique‐Hopitaux de Paris (AP‐HP), Hopital Robert‐Debré Paris France

34. Génétique médicale GHRMSA Hopital Emile Muller Mulhouse France

35. APHP Trousseau Paris France

36. Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares APHP Sorbonne Université Paris France

37. Institute of Human Genetics, Medical Faculty University Hospital Düsseldorf, Heinrich Heine University Düsseldorf Düsseldorf Germany

38. Institute of Psychiatry and Neuroscience of Paris (IPNP) INSERM U1266, Université Paris Cité Paris France

39. Laboratoire Embryologie et Génétique des Malformations Université Paris Cité, INSERM, IHU Imagine – Institut des maladies génétiques Paris France

40. Genetic Department Medizinisch Genetisches Zentrum Munich Germany

41. Genetic Department CHU Lille, Clinique de Génétique Guy Fontaine Lille France

42. INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team Université Claude Bernard Lyon 1 Bron France

43. Genetic Department Service de Génétique, CHU d'Angers Angers Cedex 9 France

44. Institute of Psychiatry and Neuroscience of Paris Université Paris Cité, INSERM U1266 Paris France

45. Department of Psychiatry McGill University Montreal Quebec Canada

46. Department of Pathology and Laboratory Medicine Western University London Ontario Canada

47. Verspeeten Clinical Genome Centre London Health Sciences Centre London Ontario Canada

48. Genetic Department University of Strasbourg Institute for Advanced Studies (USIAS) Strasbourg France

Abstract

AbstractIntroduction and MethodsWe report two series of individuals with DDX3X variations, one (48 individuals) from physicians and one (44 individuals) from caregivers.ResultsThese two series include several symptoms in common, with fairly similar distribution, which suggests that caregivers' data are close to physicians' data. For example, both series identified early childhood symptoms that were not previously described: feeding difficulties, mean walking age, and age at first words.DiscussionEach of the two datasets provides complementary knowledge. We confirmed that symptoms are similar to those in the literature and provides more details on feeding difficulties. Caregivers considered that the symptom attention‐deficit/hyperactivity disorder were most worrisome. Both series also reported sleep disturbance. Recently, anxiety has been reported in individuals with DDX3X variants. We strongly suggest that attention‐deficit/hyperactivity disorder, anxiety, and sleep disorders need to be treated.

Funder

Fondation Bettencourt Schueller

Ministère des Affaires Sociales et de la Santé

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2363

Reference16 articles.

1. GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders

2. Further delineation of DDX3X syndrome

3. Review of the Evidence on, and Fundamental Questions About, Efforts to Improve Executive Functions, Including Working Memory

4. DDX3X mutations in two girls with a phenotype overlapping Toriello–Carey syndrome

5. Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts