Characterization of recurrent UMOD variants (p.C255Y y p.Q316P) in a Galician cohort: genotype-phenotype correlation and clinical implications
Recurrent UMOD mutations in a Galician cohort revealed shared clinical features, including hyperuricemia and CKD progression, with phenotypic variability influenced by age and additional genetic modifiers. The findings highlight the prognostic value of genotype-phenotype correlations and the need for tailored clinical management in ADTKD patients.
Authors
- Noa Carrera (ORCID: https://orcid.org/0000-0003-0739-0382)
- María García-Murias (ORCID: https://orcid.org/0000-0001-6416-3480)
- Ana Barcia de la Iglesia (ORCID: https://orcid.org/0000-0003-1484-5656)
- Miguel A. García-González (ORCID: https://orcid.org/0000-0002-4330-7200)
- Eloísa Sánchez-Cazorla (ORCID: https://orcid.org/0009-0002-3767-5020)
- Borja Temes-Álvarez
- Pilar Oliveros-Martínez
- Pedro Fortes-González (ORCID: https://orcid.org/0009-0008-7016-0292)
Institutions
- Universidade de Santiago de Compostela (ES)
- Complejo Hospitalario Universitario de Santiago (ES)
- Instituto de Investigación Sanitaria de Santiago (ES)
- Complejo Hospitalario de Ourense (ES)
Publication Details
- Journal
- Nefrología (English Edition)
- Published
- 2025-04-28
- DOI
- https://doi.org/10.1016/j.nefroe.2025.04.007
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00