Genetic testing, not hematuria (blood in urine), is the more accurate method to diagnose Alport syndrome and determine its mode of inheritance within a family, a review of eight related cases reports. The review study, titled “…

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 reported the case of a Chinese family who developed Alport syndrome due to a novel mutation in the COL4A4 gene, which was previously unknown to be associated with the disease. Knowing which mutations within the COL4A4 gene lead to Alport syndrome brings valuable insight into the development…

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 from Japan identified a new mutation in a gene called COL4A5, which causes Alport Syndrome. The mutation was identified in a two-year-old Japanese girl and her mother.