Functional Characterization of a Novel PBX1 De Novo Missense Variant Identified in a Pediatric Patient with CAKUT
In conclusion, we identified a novel de novo heterozygous missense variant in <i>PBX1</i> that impairs nuclear localization of the protein, potentially limiting its role as a TF and possibly explaining the clinical phenotype of the patient.
Authors
- Licia Peruzzi (ORCID: https://orcid.org/0000-0002-5704-3867)
- Tiziana Vaisitti (ORCID: https://orcid.org/0000-0002-3375-6985)
- Carmelo Maria Romeo
- Angelo Corso Faini (ORCID: https://orcid.org/0000-0003-2193-4577)
- Fiorenza Mioli
- Martina Migliorero
- Francesca Arruga (ORCID: https://orcid.org/0000-0001-5298-9314)
- Giulia Margherita Brach Del Prever (ORCID: https://orcid.org/0009-0004-8155-0449)
- Silvia Deaglio (ORCID: https://orcid.org/0000-0003-0632-5036)
- Francesca Mattozzi
- Claudia Saglia (ORCID: https://orcid.org/0009-0009-1564-0389)
- Caterina Scolari
- Maria Luca (ORCID: https://orcid.org/0009-0006-1239-0829)
- Tullia Carradori
- Giulia Verra
Institutions
- Azienda Ospedaliera Citta' della Salute e della Scienza di Torino (IT)
- Department of Medical Sciences (BY)
- Ospedale Regina Margherita (IT)
- University of Turin (IT)
Publication Details
- Journal
- Genes
- Published
- 2025-11-07
- DOI
- https://doi.org/10.3390/genes16111346
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Ministero dell’Istruzione, dell’Università e della Ricerca
- Università degli Studi di Torino