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. 2022 Jan 31;8:810940. doi: 10.3389/fmed.2021.810940

Table 1.

Overview of genotypic and phenotypic data of related members in this pedigree.

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.