ObjectiveTo study a pedigree with familial immunoglobulin A (IgA) nephropathy and analyze its pathogenic genes. MethodsA pedigree with familial IgA nephropathy was investigated, genomic DNA was collected from the peripheral blood of the family members, and the pathogenic genes were searched for by whole exome sequencing. ResultsThere were 26 members in 5 generations in the pedigree, of which 12 members showed the clinical manifestation of renal involvement, 6 members showed proteinuria, 3 members showed microscopic hematuria, and 3 members were diagnosed with mesangial proliferative IgA nephropathy by renal pathological biopsy. The INF2 gene mutation of c.653G>A (p.R218Q) was found in the proband by whole exome sequencing of genomic DNA. ConclusionsFamilial IgA nephropathy was found in this pedigree, and whole exome sequencing revealed the INF2 gene mutation of c.653G>A (p.R218Q), which was pathogenic.

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