Tailored gene therapy repaired two mutations associated with Alport syndrome in specialized kidney cells from Alport patients, a preclinical study found. The findings point to patient-specific gene therapy as a potential effective treatment for Alport syndrome. The study, “New frontiers to cure Alport syndrome: COL4A3 and…

A given mutation in the COL4A5 gene — the gene involved in X-linked Alport syndrome — is likely not a disease-causing (pathogenic) defect although it has been identified as such, a study from China reports. Its researchers suggest that the presence of this mutation, called c.2858G>T and common to people of…

Genetic tests led to the diagnosis of X-linked Alport syndrome in a man with rheumatoid arthritis (RA), explaining the finding of small amounts of blood in his urine, according to a case report. The research, “An overlap of Alport syndrome and rheumatoid arthritis in a…

A technique called whole-exome sequencing (WES) that screens the protein-coding region of the DNA enabled the identification of mutations in the COL4A5 gene in two girls with Alport syndrome and no family history of the disease, a case study reports. The study, “De novo mutations…

A new mutation in the COL4A5 gene — the gene involved in X-linked Alport syndrome — was found in a Japanese mother and daughter who had hematuria (blood in the urine), but no other kidney problems or the often observed hearing and vision symptoms, a case report shows. Based…

Researchers have developed a high sensitivity, large-scale screening test that suggests a new molecular therapeutic approach for Alport syndrome. The study, “A Split-Luciferase-Based Trimer Formation Assay as a High-throughput Screening Platform for Therapeutics in Alport Syndrome, “ was published in the journal Cell Chemical Biology. Alport syndrome…

The possibility that infants with urine abnormalities may have both Alport syndrome (AS) and Klinefelter syndrome (KS) should be considered, even they have no family history of the diseases, researchers suggested in a case of a 9-month-old boy. The recommendation was made by Japanese scientists in the study, “Combined Alport…

Researchers in China identified a new mutation causing Alport syndrome. This knowledge can help better diagnose the condition in the future.

Variants in the COL4A3 gene may account for Alport syndrome disease severity in female patients, according to a new study. The study, “Female X-Linked Alport Syndrome With Somatic Mosaicism,” was published in the journal Clinical Experimental Nephrology. Alport syndrome is characterized by chronic kidney disease that progresses to end-stage…

Researchers have identified additional abnormalities of the retina associated with Alport syndrome, a new study shows. The study, “Bull’s Eye And Pigment Maculopathy Are Further Retinal Manifestations Of An Abnormal Bruch’s Membrane In Alport Syndrome,” was published in the journal Ophthalmic Genetics. Alport syndrome is mainly characterized by kidney…