A CSPP1 variant associated with metabolic dysfunction in Joubert syndrome: a case report
This case expands the phenotypic spectrum of CSPP1-related Joubert syndrome and raises the possibility of a role for CSPP1 in metabolic homeostasis. Further research is needed to determine whether CSPP1 mutations contribute to metabolic dysfunction via ciliary or centrosome-associated mechanisms.
Authors
- Pilar Medina (ORCID: https://orcid.org/0000-0001-9637-5998)
- Eduardo Smelin Perdomo Domínguez (ORCID: https://orcid.org/0000-0003-0991-8179)
- Milca S. Velásquez-Hernandez
- Liany F. Acosta-Paguada
Institutions
- Universidad Tecnológica de Honduras (HN)
- Universidad Católica de Honduras Nuestra Señora Reina de la Paz (HN)
- Honduras Foundation for Agricultural Research (HN)
Publication Details
- Journal
- Journal of Medical Case Reports
- Published
- 2025-09-02
- DOI
- https://doi.org/10.1186/s13256-025-05332-w
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00