Fig. 2

Renal histology and genetic/complementary DNA analysis of Case 2 & 3. a In the genomic level, the G before the last nucleotide of the intron is mutated to A, causing the splicing site to shift. b Histopathological examination of a renal biopsy showed membranoproliferative glomerulonephritis. An immunofluorescence micrograph illustrating diffuse glomerular C3 deposition. c Complementary DNA (cDNA) analysis revealed a skipping of exon 4. The band on gel electrophoresis confirmed a shorter cDNA product from the patient. d The family pedigree of Case 2 and 3 harboring heterozygous SLC7A7 mutations. The father of Case 2 and 3 deceased and the mother is negative for SLC7A7 mutation