Fig. 1

The Finnish 5.2 kb TYROBP deletion. A WGS data show homozygous 5.2-kb deletion encompassing TYROBP exons 1–4 in a Finnish NHD patient. The horizontal lines indicate WGS reads spanning across the deletion. The deletion breakpoints are located within a 23-bp identical sequence (black, underlined). B Schematic of the TYROBP deletion founder haplotype. The boxes indicate haplotype blocks identified using microsatellite markers (grey bars) [13]. The grey shading indicates the haplotype region shared by all Finnish NHD patients, while the red shading indicates the 5.2-kb TYROBP deletion. Asterisks denote the haplotypes detected in the NHD patients in the current study. Purple lines indicate the SNVs identified in the current study within the shared haplotype region. C Regional allele frequency of rs1244787406-G in Finland. The black line separates the early settlement region along the southern and western coastlines from the late settlement region that was permanently inhabited from the sixteenth century onwards by internal migration (arrows) mainly from the current South Savo region in the southeastern Finland. The circles represent the birth places of the grandparents of the Finnish NHD patients according to [43]. The highest present day allele frequencies of the TYROBP deletion proxy marker rs1244787406-G are detected in the late settlement area and coincide with the previously reported regional enrichment