The PHOX2B c.428A>G missense variant affects post-transcriptional regulation and may explain the absence of neural crest-derived tumors in congenital central hypoventilation syndrome
We, therefore, propose that in the presence of splicing defects of PHOX2B, a loss-of-function mechanism may underlie CCHS + HSCR and potentially explain the absence of neural-crest-derived tumors.
Authors
- Isabella Ceccherini (ORCID: https://orcid.org/0000-0001-8732-1955)
- Luigina Spaccini (ORCID: https://orcid.org/0000-0001-7522-0241)
- Simona Bagnasco
- Francesco Morandi
- Tiziana Bachetti (ORCID: https://orcid.org/0000-0002-9456-8945)
- Francesca Menni (ORCID: https://orcid.org/0000-0003-2724-2811)
- Igor Catalano
- Giuseppe Santamaria (ORCID: https://orcid.org/0000-0002-7686-6703)
- Francesco Cavigioli (ORCID: https://orcid.org/0000-0002-9681-5356)
- Maria Francesca Bedeschi (ORCID: https://orcid.org/0000-0003-0174-3562)
Institutions
- Istituto Giannina Gaslini (IT)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- Italian Society of Physiotherapy (IT)
- Ospedale dei Bambini Vittore Buzzi (IT)
- Ospedale Policlinico San Martino (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- European Association for Palliative Care (BE)
Publication Details
- Journal
- Frontiers in Physiology
- Published
- 2025-09-22
- DOI
- https://doi.org/10.3389/fphys.2025.1616994
- Primary Topic
- Neuroscience of respiration and sleep
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Ministero della Salute