Figure 3. A novel H395R mutation in MKKS/BBS6. A: Consanguineous pedigree with homozygous missense mutation in exon 5 of the MKKS/BBS6 gene found in both siblings. Sanger sequencing confirmed heterozygosity of the variant in parents. B: Conservation of exon 5 amino acids of MKKS/BBS6 across species. The arrow indicates the location of the H395R mutation.