Fig. 2

3′UTR mutation in SLC4A4 is discovered in three families. a Agile Multi Ideogram showing the exclusive region of homozygosity (ROH) between the affected individuals in the three families (dark blue) on Chr4 that is not shared with any of the unaffected individuals (pink). Light blue and pink blocks denote ROHs present in affected and unaffected members, respectively. b Schematic of SLC4A4 gene that is 233.03Kb in length. Small blue box indicates UTR region, while the triangle locates the position of the mutation identified by whole-exome sequencing. c Genomic DNA sequence chromatogram of the 3′UTR mutation that was found to segregate in all three families. d Analysis of SLC4A4 expression by RT-QPCR in two patient LCL compared to two gender matched controls reveals > 85% reduction in expression of the gene. Results are normalized to GAPDH and are an average from triplicate readings from three independent experiments. P values are paired Student’s t-test, **P < 0.01. Error bars are SEM