Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant

Figure 4

Putative ancestral chromosomal segment around the PRSS56 c.1509G>C variant. The single nucleotide polymorphism (SNP) database reference SNP (rs) ID of each variant and its minor allele frequency (MAF) mined from gnomAD database v2.1.1. are shown. SNPs in linkage disequilibrium with the disease-causing variant in PRSS56 as observed in two affected individuals (IV:4 and V:1) are highlighted in red. These SNPs were also found in two other reportedly unrelated Czech Roma subjects (R1 and R2), heterozygous carriers of the PRSS56 variant, indicating putative shared chromosomal segment with minimal interval delineated by two low frequent SNPs, rs10192111 and rs78999970 (size ∼1.65 Mb). The region possibly extends up to variants rs2289231 and rs62191529 (size ∼4.69 Mb).