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Fig. 2 | Human Genomics

Fig. 2

From: Mutation in XPO5 causes adult-onset autosomal dominant familial focal segmental glomerulosclerosis

Fig. 2

Identification of a heterozygous XPO5 missense variant in familial FGGS (CKD-05). A Pedigree of the family (CKD-05). Symbols are represented as: males (squares), females (circles), affected individuals having kidney related problem (black), phenotype unknown (gray), unaffected individuals (blank), star (individuals selected for whole-exome sequencing), and arrowhead (proband). B Sanger sequencing of mutant XPO5 (c.T1655C, p.V552A) of II: 3. C Jones stain (200X) showed three glomeruli with global sclerosis (white arrows). D Electron micrographs (2500X) showed partial fusion of foot processes (red arrow). Mut, mutant; WT, wild type

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