Table 1.
Individual | Gender | Age | Age at onset* | Renal function | Renal Biopsy# | Gene variants& | WES |
---|---|---|---|---|---|---|---|
III-5 | Male | 72 | NA | Normal | NA | NA | Yes |
III-6 | Female | 73 | 50/proteinuria/ hematuria | Normal | NA | WT1: exon9: c.1397C>T;p.Ser466Phe | Yes |
NPHS1: exon27: c.3478C>T;p.Arg1160Ter | |||||||
III-7 | Male | 71 | NA | Normal | NA | NPHS1: exon27: c.3478C>T;p.Arg1160Ter | No |
III-8 | Female | 70 | NA | Normal | NA | NA | No |
IV-4 | Male | 42 | NA | Normal | NA | NA | No |
IV-5 | Male | 52 | 32/proteinuria | Normal | IgAN | WT1: exon9: c.1397C>T;p.Ser466Phe | Yes |
NPHS1: exon27: c.3478C>T;p.Arg1160Ter | |||||||
IV-6 | Female | 54 | NA | Normal | NA | NA | Yes |
IV-7 | Male | 50 | 30/proteinuria/hematuria | ESKD | NA | WT1: exon9: c.1397C>T;p.Ser466Phe | Yes |
IV-8 | Female | 49 | NA | Normal | NA | WT1: exon10: c.1433-10G>A | Yes |
IV-9 | Male | 45 | NA | Normal | NA | NA | No |
IV-10 | Male | 42 | NA | Normal | NA | NA | No |
V-1 | Male | 31 | 18/proteinuria | Normal | NA | WT1: exon9: c.1397C>T;p.Ser466Phe | Yes |
V-2 | Female | 30 | NA | Normal | NA | NA | No |
V-3 | Male | 29 | NA | Normal | NA | NPHS1: exon27: c.3478C>T;p.Arg1160Ter | Yes |
V-4 | Female | 27 | NA | Normal | NA | NA | No |
V-6 | Female | 28 | 24/proteinuria/hematuria | ESKD | IgAN | WT1: exon9: c.1397C>T;p.Ser466Phe | Yes |
WT1: exon10: c.1433-10G>A | |||||||
V-7 | Male | 24 | 15/proteinuria/hematuria | ESKD | NA | WT1: exon9: c.1397C>T;p.Ser466Phe | Yes |
WT1: exon10: c.1433-10G>A | |||||||
VI-1 | Female | 4 | NA | Normal | NA | WT1: exon9: c.1397C>T;p.Ser466Phe | No |
VI-2 | Female | 5 | NA | Normal | NA | NPHS1: exon27: c.3478C>T;p.Arg1160Ter | No |
WES, whole-exome sequencing; WT1, Wilms tumor suppressor 1; NPHS1, nephrin; IgAN, IgA nephropathy; ESKD, end-stage kidney disease.
NA means renal function was normal so far.
NA means family members did not take renal biopsy.
NA means no gene variant was detected.