Figure 2. Molecular analysis of the Pakistani pedigree. A: Confirmatory microsatellite genotyping highlighted a homozygous region on chromosome 1q between the markers D1S496 and D1S200 as being linked with the disease phenotype. The physical distance for each marker is represented based on the human February 2009 assembly (hg19) of the UCSC Genome Browser. The FOXE3 gene is marked within the refined interval at 47.9Mb. B: The sequencing chromatogram shows the c.720C>A mutation in the FOXE3 gene in an affected member of the Pakistani pedigree.