Figure 1.

WES identifies biallelic missense variants in the gene MYO1C encoding the motor protein Myosin 1C, in two unrelated families with nephrotic syndrome. (a) Pedigree of index families (B3913 and B3943). Squares represent males, circles females, double line denotes consanguinity, black shading indicates the affected individual, and red dots highlight individuals included in whole exome sequencing. (b) homozygosity mapping depicts high homozygosity in both families and confirms the reported consanguinity. A homozygous peak on chromosome 17 (arrowhead) that includes MYO1C is present in both families. (c) Evolutionary conservation across orthologues of MYO1C. Respective variants are indicated by the arrowhead. (d) Exon structure (black and white) and domain structure (colored) of MYO1C, depicting the location of the two MYO1C variants.

Mbps, mega base pairs; aa, amino acids; H.s., Homo sapiens; M.m., Mus musculus; G.g., Gallus gallus; X.t., Xenopus tropicalis; D.r., Danio rerio