Figure 1. Autosomal dominant nanophthalmos and high hyperopia associated with a heterozygous frameshift variant in MYRF. A: Nanophthalmos pedigree showing affected (filled) and unaffected (unfilled) members. Asterisks indicate individuals in which the c.3361delC variant was confirmed with capillary sequencing. B: Chest X-ray of the proband’s son (IV:2) showing a right congenital diaphragmatic hernia. C: Capillary sequencing trace of the MYRF c.3361delC variant in the proband (III:2), showing the reference and frameshifted variant sequences above and below the trace, respectively. D: Expanded cDNA and translated protein sequences from the MYRF reference sequence (NM_001127392.3), and the c.3361delC variant. Sequence encoded by the penultimate exon (exon 26) is highlighted in blue, with the frameshifted protein sequence highlighted in red. The c.3361 nucleotide is marked with an asterisk. E: MYRF locus schematic, showing the location of the variant described here (black symbol) and its proximity to variants described previously (gray [14] or white [15] symbols). F: MYRF protein schematic, showing the location of individual domains, and relative positions of reported disease-associated variants associated with nanophthalmos or high hyperopia (squares), or syndromic presentations (colored circles). Symbols (^) indicate nanophthalmos or high hyperopia variants associated with syndromic features. CC, coiled-coil domain; TM, transmembrane domain; red asterisk indicates the autolytic cleavage site.