Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts
Our data support that <i>IFT140</i> heterozygous <i>IFT140</i> LoF variants result in an atypical, mild form of ADPKD, consisting of bilateral kidney cysts and renal functional decline at older ages. Furthermore, we describe the second pediatric patient with a mild form of ADPKD due to an <i>IFT140</i> variant and discuss hyperuricemia as a previously unappreciated feature of this condition.
Authors
- Bianca De Nicolo
- Carlotta Pia Cristalli (ORCID: https://orcid.org/0000-0003-1428-8714)
- Andrea Pasini (ORCID: https://orcid.org/0000-0001-8479-8379)
- Valeria Aiello (ORCID: https://orcid.org/0000-0002-2718-0414)
- Irene Capelli (ORCID: https://orcid.org/0000-0003-4829-5664)
- Francesca Ciurli (ORCID: https://orcid.org/0009-0000-2043-5528)
- Soara Menabò (ORCID: https://orcid.org/0000-0002-2379-4232)
- Giulia Vitetta (ORCID: https://orcid.org/0009-0001-7289-9508)
- Giulia Severi (ORCID: https://orcid.org/0000-0001-8184-865X)
- Roberto Pillon (ORCID: https://orcid.org/0000-0003-1574-3301)
- Irene Alberici (ORCID: https://orcid.org/0000-0002-3428-5257)
- Claudio Graziano (ORCID: https://orcid.org/0000-0003-3875-6869)
- Cesare Rossi (ORCID: https://orcid.org/0000-0003-1826-615X)
- Andrea Pietra (ORCID: https://orcid.org/0009-0009-4638-0655)
- Elena Bonora (ORCID: https://orcid.org/0000-0001-6132-7734)
- Claudio La Scola (ORCID: https://orcid.org/0000-0002-2644-7447)
- Simona Ferrari
- Luca Caramanna
- Francesco Montanari
- Stefania Calabrese
Institutions
- Azienda USL di Bologna (IT)
- University of Bologna (IT)
Publication Details
- Journal
- Genes
- Published
- 2025-04-22
- DOI
- https://doi.org/10.3390/genes16050472
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00