Lessons from two series by physicians and caregivers’ self-reported data, and DNA methylation profile in DDX3X-Related Disorders-Reference-Cited by-同舟云学术

Lessons from two series by physicians and caregivers’ self-reported data, and DNA methylation profile in DDX3X-Related Disorders

Published:2023-04-10 Issue: Volume: Page:
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Geneviève David¹^ORCID,Ruault Valentin¹,Burger Pauline²,Gradels-Hauguel Johanna³,Ruiz-Pallares Nathalie⁴,Association Xtraordinaire⁵,Jamra Rami Abou⁶^ORCID,Afenjar Alexandra⁷,Alembik Yves⁸,Alessandri Jean-Luc⁹,Stéphanie Arpin¹⁰,Barcia Giulia¹¹^ORCID,Bendová Šárka¹²,Bruel Ange-Line¹³^ORCID,Charles Perrine,Chatron Nicolas¹⁴^ORCID,Chopra Maya^ORCID,Conrad Solène¹⁵,Cormier-Daire Valérie¹⁶^ORCID,Cospain Auriane¹⁷,Coubes Christine¹⁸,Coursimault Juliette¹⁹,Delahaye-Duriez Andrée³,Doco-Fenzy Martine²⁰,Dufour William²¹,Durand Benjamin²²,ENGEL Camille²³,Faivre Laurence²⁴,Ferroul Fanny⁹,FRADIN Mélanie²⁵,Frenkiel Hélène⁵^ORCID,Fusco Carlo²⁶,Garavelli Livia²⁷^ORCID,Garde Aurore,Gérard Bénédicte²²,Germanaud David³,Goujon Louise³,Gouronc Aurélie²⁸^ORCID,Ginglinger Emmanuelle²⁹,Goldenberg Alice³⁰,Hancarova Miroslava¹²,Hancarova Miroslava,Héron Delphine³¹,Isidor Bertrand¹⁵,Marçais Nolwenn Jean³²,Keren Boris,Koch-Hogrebe Margarete,Kuentz Paul³³^ORCID,Lamure Victoria³⁴,Lebre Anne-Sophie³⁵^ORCID,Lecoquierre François,Lehman Natacha³⁶^ORCID,Lesca Gaetan³⁷^ORCID,Lyonnet Stanislas³⁸,Martin Delphine⁵,Mignot Cyril³⁹,Neuhann Teresa,Nicolas Gaël⁴⁰,Nizon Mathilde^ORCID,Petit Florence⁴¹^ORCID,Philippe Christophe³³^ORCID,Piton Amélie²²,Pollazzon Marzia⁴²^ORCID,Prchalova Darina,Putoux Audrey,RIO Marlène⁴³^ORCID,Rondeau Sophie⁴⁴,Rossi Massimiliano^ORCID,Sabbagh Quentin¹,Saugier-Veber Pascale⁴⁰,Schmetz Ariane^ORCID,Steffann Julie¹¹,Thauvin-Robinet Christel⁴⁵^ORCID,Toutain Annick⁴⁶^ORCID,Tran-Mau-Them Frédéric⁴⁷^ORCID,Trimarchi Gabriele²⁷,Vincent Marie⁴⁸^ORCID,Vlckova Marketa⁴⁹,Wieczorek Dagmar⁵⁰,Willems Marjolaine⁵¹^ORCID,yauy kevin¹,Zelinová Michaela¹²^ORCID,Ziegler Alban,Chaumette Boris³,Sadikovic Bekim⁵²^ORCID,Mandel Jean-Louis⁵³

Affiliation:

1. Centre de Reference Maladies Rares Anomalies du developpement, Hopital Arnaud de Villeneuve

2. GENIDA

3. APHP

4. CHU Montpellier

5. Xtraordinaire

6. University Medical Center Leipzig

7. Hôpital Trousseau, AP-HP

8. CHU Strasbourg

9. CHR de la Réunion - CH Félix Guyon

10. CHU Tours

11. Hopital Necker Enfants malades

12. Charles University Second Faculty of Medicine and University Hospital Motol

13. FHU-TRANSLAD, CHU DIJON

14. CHU de Lyon HCL - GH Est

15. CHU de Nantes

16. CHU Paris - Hôpital Necker-Enfants Malades

17. CHU de Rennes

18. CHU de Montpellier

19. CHU de Rouen

20. CHU-Reims

21. University Hospital of Lyon and Claude Bernard Lyon I University

22. Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg

23. CHU de Besançon

24. Hôpital d'Enfants, CHU et Université de Bourgogne

25. Service de Génétique Médicale, Hôpital Sud, CHU de Rennes

26. Department of Pediatrics, Child Neurology Unit, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy; Department of Pediatrics, Pediatric Neurophysiology Laboratory, Azienda USL- IRCCS di Reggi

27. Azienda USL-IRCCS di Reggio Emilia

28. Strasbourg University Hospital

29. Hopital Emile muller

30. Rouen University Hospital

31. Groupe Hospitalier Pitié Salpetriere, CRicm, UMR-5975

32. CHU Rennes

33. Université de Bourgogne Franche-Comté

34. centre Hospitalier Universitaire de Reims

35. CHU de Reims

36. Arnaud de Villeneuve, CHU Montpellier

37. CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant

38. INSERM

39. Charite University Medicine Berlin

40. Univ Rouen Normandie

41. CHRU de Lille, Hôpital Jeanne de FlandreCHU Lille

42. University of Modena and Reggio Emilia - San Lazzaro Campus

43. Fédération de Génétique, Hôpital Necker-Enfants Malades,

44. Groupe Hospitalier Necker-Enfants malades

45. Hôpital d'Enfants

46. CHU de Tours

47. UF6254 Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares

48. Department of Dermatology, CHU Nantes

49. Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic

50. Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität Düsseldorf

51. Hopital Arnaud de Villeneuve

52. Schulich School of Medicine & Dentistry, Western University

53. CNRS/INSERM/ULP

Abstract

Abstract We report two series of individuals with DDX3X variations, one (48 individuals) from physicians and one (44 individuals) from caregivers. These 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. Each of the two datasets provide complementary knowledge. We confirmed that symptoms are similar to those in the literature and provide more details on feeding difficulties. Caregivers considered that the symptom attention-deficit/hyperactivity disorder was 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. In addition, we demonstrate preliminary evidence of a mild genome-wide DNA methylation profile in patients carrying mutations in DDX3X.

Publisher

Research Square Platform LLC

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