Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis

Conclusions
We show that collagen IV mutations, including COL4A5, frequently underlie FSGS and should be considered, particularly with a positive family history. Targeted NGS improves diagnostic efficiency by investigating many candidate genes in parallel.

Source: Nephrology Dialysis Transplantation - May 22, 2016 Category: Urology & Nephrology Authors: Gast, C., Pengelly, R. J., Lyon, M., Bunyan, D. J., Seaby, E. G., Graham, N., Venkat-Raman, G., Ennis, S. Tags: Chronic Kidney Disease Source Type: research