Figure 1: PNPLA6 mutations in individuals from seven families with childhood blindness.

Sequencing reads are aligned against positive strand of hg19. Vertical arrows represent the 100 paired-end reads in 5,267 and 5,273 patients, respectively. Both patients carry heterozygous mutations in PNPLA6: 5,267 has 2 missense mutations c.1571T>C (leucine to proline substitution at codon 524) and c.3373G>A (aspartic acid to asparagine at codon 1125). Patient 5,273 has a nonsense mutation c.2116C>T, which result in a glutamine to stop codon at codon 706, leading to loss of the last 669 amino acids of the protein and a missense mutation c.3385G>C glycine to arginine at codon 1129. All of the complementary DNA positions are based on PNPLA6 NM_001166111.1. Moreover, shown are seven families/pedigrees with various forms of childhood blindness due to photoreceptor degeneration in OMS and LCA. Chromatograms of the PNPLA6 mutations, pedigrees and co-segregation of the mutations are shown for each family (Supplementary Fig. 1).