Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis

Samples were submited for analysis having familia hematuria and/or FSGS and were anayzed by Ampliseq sequencing technology for a panel of 5 genes (COL4A3, COL4A4, COL4A5, CFHR5, FN1) on an Ion Torrent PGM. 10ng of genomic DNA were processed by the Ion AmpliSeq™ Library Kit 2.0, barcoded and amplified using Ion PGM™ Template OT2 200 Kit. Mean depth of coverage was >40.