TürkiyeResearch and clinical trials
31 patients with Joubert syndrome in Istanbul: genetic cause found in 23 families, 13 new gene changes
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
Patients with Joubert syndrome were studied at Istanbul University-Cerrahpaşa. The study included 31 patients from 28 families. Patients were followed for an average of 7.4 years. A genetic cause was found in 23 of the families; the most common genes were AHI1 and CEP290. Kidney and liver involvement was mild in most patients.
What does it mean for patients and families?
Knowing which gene is affected helps plan eye and kidney follow-up. Symptoms can differ even within the same family. Ask your doctor about genetic counseling.
Source
Scientific paper: Molecular Spectrum and Deep Phenotyping of a Turkish Joubert Syndrome Cohort, Including a Potential Candidate Gene, NPHP4. Turkish Archives of Pediatrics, 2025. DOI: 10.5152/TurkArchPediatr.2025.25326 · PubMed 42044428
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Joubert syndrome
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.