Persistent tachypnoea of infancy (PTI/NEHI) and obesity in <i>SRRM2</i> -related developmental disorder
<title>Extract</title> Within the chILD-EU register, we are longitudinally following 221 individuals with persistent tachypnoea of infancy (PTI, also referred to as neuroendocrine cell hyperplasia of infancy (NEHI)) diagnosed by a multidisciplinary team specialised in childhood interstitial lung disease (chILD) [1]. Since its description in 2022, <italic>SRRM2</italic>-haploinsufficiency has been associated with neurodevelopmental delay (NDD), obesity [2–6] and, in at least one case, the PTI/NEHI phenotype [3].
Authors
- Christina Rapp (ORCID: https://orcid.org/0000-0002-7371-8158)
- Ernst Eber (ORCID: https://orcid.org/0000-0001-7628-030X)
- Florian Gothe (ORCID: https://orcid.org/0000-0003-0421-6610)
- Markus Egger
- Freerk Prenzel (ORCID: https://orcid.org/0000-0002-2838-593X)
- Katharina Mauss-Schwarzer
- Dorit Aschmann-Mühlhans
- Julia Rodler
- Matthias Griese
- Simone Reu-Hoefer
Institutions
- Medical University of Graz (AT)
- University of Würzburg (DE)
- University Hospital Leipzig (DE)
- Marienkrankenhaus Hamburg (DE)
- German Center for Lung Research (DE)
- Altonaer Kinderkrankenhaus (DE)
Publication Details
- Journal
- European Respiratory Journal
- Published
- 2026-02-01
- DOI
- https://doi.org/10.1183/13993003.02135-2025
- Primary Topic
- Congenital Diaphragmatic Hernia Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00