FIGURE

Figure 1

ID

ZDB-FIG-220426-72

Publication

Lane et al., 2021 - Steroid-sensitive nephrotic syndrome candidate gene CLVS1 regulates podocyte oxidative stress and endocytosis

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Figure 1

CLVS1 p.H310Y is a potential cause of familial childhood SSNS.

(A) Pedigree of family with SSNS showing segregation of the homozygous CLVS1 p.H310Y variant (c.928C>T, GRCH37/hg19) with disease. Filled circles and square represent affected individuals; unfilled circles, squares, and diamonds represent unaffected individuals. The parents of the family were estimated from their sequencing data to be second degree relatives (kinship coefficient of 0.106). (B) Regions of homozygosity (ROH) potentially implicated in SSNS. The 5 ROH (blue boxes, spanning each of the ROH on its respective chromosome) are those shared by both children with SSNS (ID 1 and 100) and are not in ROH in any of the unaffected relatives who were sequenced (ID 1000, 1001, 101). Gene locations are marked with red vertical lines. Candidate genes CLVS1 and MX2 are located in these ROH.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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