Fig. 2.
Pedigree of family CY5500. For family members with a UCY code, there is available a DNA sample. Four patients of the family carry both variants (patients UCY2075 and UCY2069 are actually hemizygous for the COL4A5 variant). Family member UCY2067 carries only the LAMA5 variant in heterozygosity, having normal kidney function and being negative for microscopic hematuria, aged 27