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. 2016 May 4;139(6):1666–1672. doi: 10.1093/brain/aww066

Figure 3.

Figure 3

Pedigree of family with HDLS and sequence at the novel CSF1R p.E664K mutation site. Filled circles (black or hashed pattern) indicate affected family members. Transplanted individual (Patient II-1) is labelled with ‘HSCT’ and filled with a hashed pattern to indicate a milder clinical course. Deceased individual is marked by a slash. Sanger sequence traces of DNA surrounding the c.1990G > A, p.(E664K) mutation shaded in blue [reverse strand sequence corresponding to wild-type CC homozygous genotype (wt) or heterozygous CT genotype (het) are shown for each family member]. The source of DNA for each trace is listed below the trace diagram and fraction of mutant allele reads from exome sequencing or estimated by Sanger sequencing is indicated in brackets after source of DNA. Mosaicism is seen in DNA from blood and saliva from Patient I-2 (mother). Sanger trace for transplanted Patient II-1 in blood spot DNA is ∼50% (consistent with 57.5% normal allele expected based on 15% donor chimerism).