Cone Dystrophy in Patient with Homozygous RP1L1 Mutation

Figure 6

Molecular genetic results. (a) Sequence chromatograms for normal control (top), Case II-2 (middle), and Case III-2 (bottom) are shown. Case II-2 had a homozygous c.3628T>C mutation in exon 4. Case III-2 had a heterozygous c.3628T>C mutation. Position c.3628 is indicated by red arrow. (b) Alignment of amino acid position 1191 to 1220 of RP1L1 family proteins. Amino acid-sequence alignments of RP1L1 from 10 species reported in the NCBI database are shown. Amino acid position of 1210 is indicated by arrows. (c) Direct sequencing results of PCDH15 gene were shown. Sequence chromatograms for normal control (top) and II-2 (bottom) are shown. II-2 had a heterozygous c.2768C>T mutation. (d) Direct sequencing results of RPGRIP1 gene are shown. Sequence chromatograms for normal control (top) and Case II-2 (bottom) are shown. Case II-2 had a heterozygous c.3634G>A mutation. (e) Direct sequencing results of GPR98 gene were shown. Sequence chromatograms for normal control (top) and Case II-2 (bottom) are shown. Case II-2 had a heterozygous c.7264C>T mutation.