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ajmga35983-sm-0001-SupFig-S1.docx426KSupplementary FIG. 1. Zebrafish fnbp4 experiments. (A) RT-PCR analysis of fnbp4 confirming expression in the eye and fin tissues (upper panel). The lower panel shows the EF1α control. (B) Schematic representation of the fnbp4 gene. UTR and coding regions are open and filled rectangles, respectively. The corresponding position of MO-1 targeting the splice site of intron 5, the location that is mutated in the patient, is schematically presented. (C) Gross morphology of fnbp4 knockdown embryos at 48 hours post-fertilization. Wild-type embryos (top), splicing blocking MO-injected embryos (MO-1: 5′-CCTCACAATCAAGAACTGACCTGCC-3′) (middle), translation blocking MO-injected embryos (MO-2: 5′-CCTCACAATCAAGAACTGACCTGCC-3′; bottom) are shown. The eye malformation was detectable in embryos injected with MO-1. MO-2-injected embryos showed embryonic lethality with the eye malformation. (D) The quantification of the eye size in wild types and morphants are shown (P < 0.05 for wild-type versus MO-1, MO-2-injected embryos). Eye size in each embryo was quantitated using a selection tool in Adobe Photoshop for a color range that was chosen by 74 and statistical analyses were performed by t-test using Statview version 5.0.

Table S1. Direct Sequence Genes

Table S2. Homozygous Regions (>1-Mb in Size)

Table S3. Whole-Exome Sequencing Performance

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