Mutations in SOX17 Linked to Kidney and Urinary Tract Anomalies
Author Information
Author(s): Gimelli Stefania, Caridi Gianluca, Beri Silvana, McCracken Kyle, Bocciardi Renata, Zordan Paola, Dagnino Monica, Fiorio Patrizia, Murer Luisa, Benetti Elisa, Zuffardi Orsetta, Giorda Roberto, Wells James M, Gimelli Giorgio, Ghiggeri Gian Marco
Primary Institution: Università di Pavia
Hypothesis
The study investigates the role of SOX17 mutations in congenital anomalies of the kidney and urinary tract (CAKUT).
Conclusion
The SOX17 p.Y259N mutation is recurrent in patients with CAKUT and correlates with abnormal protein accumulation and Wnt signaling inhibition.
Supporting Evidence
- Mutations in SOX17 were identified in eight patients with CAKUT.
- The p.Y259N mutation recurred in six patients.
- Transfection studies showed a 5–10-fold increase in mutant SOX17 protein levels.
- SOX17 p.Y259N inhibited Wnt/β-catenin transcriptional activity.
Takeaway
Some kids are born with problems in their kidneys and urinary systems because of a change in a gene called SOX17.
Methodology
The study analyzed familial and sporadic cases of vesico-ureteral reflux (VUR) and performed genetic sequencing to identify mutations in the SOX17 gene.
Limitations
The study may not account for all genetic factors contributing to CAKUT, as it focuses primarily on SOX17 mutations.
Participant Demographics
The study included 58 familial cases and 178 sporadic cases, with a mix of male and female participants.
Statistical Information
P-Value
p<0.01
Statistical Significance
p<0.01
Digital Object Identifier (DOI)
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