Fig. 6.

Features of the prevalent deletion of exons 13 and 14 in EYS. A) Autozygosity plots of eight patients, showing the common homozygous haplotype on chromosome 6 that eventually led to the identification of the most common mutation from our cohort. Homozygous regions are indicated by solid blue bars, while the red vertical, dotted line shows the minimal critical region spanning EYS. B) Coverage plot of four selected homozygotes for this mutation, as well as another patient (LL323, affected sister of index patient LL175), who carries this deletion in compound heterozygosity with another mutation in EYS. The area shaded in blue indicates the approximate location of the deletion, as inferred from the reduction of sequence coverage. C) Schematic representation detailing the deletion and the resulting novel junction. Genomic coordinates are given with respect to build GRCh37-hg19 of the human genome sequence. PCR primers allowing the detection of this junction are also indicated.