Study Results from Institute of Nephro-Urology Broaden Understanding of Joubert Syndrome (A Unique Case of Joubert Syndrome with Concurrent IgA Nephropathy and Nephronophthisis in an Adult Patient).

A recent study conducted in Karnataka, India, focused on a unique case of Joubert syndrome in an adult patient. The patient, a 30-year-old male with intellectual disability, developmental delay, and Type 1 diabetes, presented with kidney dysfunction and uremic symptoms. Physical examination revealed various symptoms, including hypertension, retinitis pigmentosa, and muscle hypotonia. Genetic testing confirmed a homozygous nonsense variant in the AHI1 gene, which is known to cause Joubert syndrome 3. This case is notable for its genetic proof of an AHI1 mutation causing Joubert syndrome in an Indian patient, as well as the co-occurrence of IgA nephropathy with nephronophthisis. [Extracted from the article]