<i>D</i> <i>e novo SRRM2</i> variants in neuroendocrine cell hyperplasia of infancy and persistent tachypnoea of infancy
This study identifies <i>SRRM2-</i>related disorder as a monogenic cause of NEHI/PTI. These results suggest that NEHI/PTI patients should be evaluated by a paediatric neurologist and that <i>SRRM2</i> sequencing should be included in every NEHI/PTI workup.
Authors
- Florence Dastot‐Le Moal
- Yohan Sorèze (ORCID: https://orcid.org/0000-0001-7803-5113)
- Tifenn Desroziers (ORCID: https://orcid.org/0000-0001-7071-5173)
- Marina Konyukh (ORCID: https://orcid.org/0009-0006-1614-3235)
- Alix de Becdelièvre (ORCID: https://orcid.org/0000-0002-0488-3475)
- Laure Cosson (ORCID: https://orcid.org/0000-0001-9469-9796)
- Arnaud Bécourt
- C. Troadec
- Valérie Nau
- Aurore Coulomb L’Herminé (ORCID: https://orcid.org/0000-0002-0945-7379)
- Nadia Nathan (ORCID: https://orcid.org/0000-0001-5149-7975)
- Marie Legendre (ORCID: https://orcid.org/0000-0003-2178-0846)
- Irina Giurgea (ORCID: https://orcid.org/0000-0002-5035-2958)
- Isabelle Gibertini
- Julie Mésinèle (ORCID: https://orcid.org/0000-0002-4129-4362)
- Camille Louvrier (ORCID: https://orcid.org/0000-0003-2105-1117)
- Rola Abou Taam (ORCID: https://orcid.org/0000-0003-2791-2707)
- Diana Rodriguez (ORCID: https://orcid.org/0000-0001-6594-1985)
- Raphaël Borie (ORCID: https://orcid.org/0000-0002-9906-0024)
- Jean-Christophe Dubus
- Romain Levergeois
Institutions
- Université de Tours (FR)
- Hôpital Necker-Enfants Malades (FR)
- Inserm (FR)
- Université Paris-Est Créteil (FR)
- Université Paris Cité (FR)
- Aix-Marseille Université (FR)
- Centre Hospitalier Universitaire Henri-Mondor (FR)
- Sorbonne Université (FR)
- Hôpital Armand-Trousseau (FR)
- Centre Hospitalier Universitaire Amiens-Picardie (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Technologie Médicale (France) (FR)
- Hôpitaux Universitaires Henri-Mondor (FR)
- Centre de Recherche Saint-Antoine (FR)
- Hôpital Bichat-Claude-Bernard (FR)
- Hôpital des Enfants (FR)
- Institut Mondor de Recherche Biomédicale (FR)
- Maladies génétiques d’expression pédiatrique
- SoLID : SOrbonne study group for Lung Infectious Diseases (FR)
Publication Details
- Journal
- European Respiratory Journal
- Published
- 2025-09-18
- DOI
- https://doi.org/10.1183/13993003.00777-2025
- Citations
- 2
- Primary Topic
- Neonatal Respiratory Health Research
- Type
- article
- Field-Weighted Citation Impact
- 3.04