Figure 1.

ANLN mutation in a kindred with familial FSGS. (A) Pedigree of a family with familial FSGS. There are at least nine affected family members with male-to-male transmission consistent with an AD mode of transmission. DNA is available from individuals enclosed in red squares and they are genotyped. (B) Representative kidney biopsy histology from an affected individual in family 6562 showing an area of segmental glomerulosclerosis. (C) Genome-wide linkage scan using the Illumina Infinium II HumanLinkage-24 genotyping beadchip assay yields suggestive multipoint LOD scores of 1.7 on chromosomes 2p and 5p and 1.8 on chromosome 7p in family 6562. Chromosome numbers are shown on the x axis and LOD scores are on the y axis. ANLN is located in the chromosome 7p peak (red arrow). (D) Missense heterozygous mutation in exon 7 1291 C>T R431C found in the ANLN gene. Top, mutant sequence; bottom, wild-type sequence. (E) The R431 residue is conserved in evolution to zebrafish (red box).