A novel pathogenic COL4A5 variant in a family with multiple patients with X-linked Alport syndrome. Homo sapiens

We investigated a family with two affected brothers who were diagnosed with end-stage renal disease in the 2nd and 3rd decade of life without any obvious underlying cause. Whole-exome sequencing of effected family members brought on the identification of a novel missense COL4A5 variant (c.G449A) on the X chromosome.