COL4A5 Mutation Tied to XLAS Does Not Cause Disease, Study Suggests

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…

XLAS Patients with ARAS Mutations are Rare, but They may Experience Worse Symptoms, Small Study Shows

Patients with X-linked Alport syndrome who have mutations in their COL4A3 or COL4A4 genes — characteristic of autosomal recessive forms of the disease — are rare but may experience more severe disease,…

New Mice Model Mimics Features of Human XLAS

A new mice model carrying a COL4A5 gene mutation that mimics many of the clinical features of human X-linked Alport syndrome was developed by Japanese researchers. These animals can now be used to better understand the underlying metabolic and biochemical mechanisms involved in the development and progression of…