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. Author manuscript; available in PMC: 2018 Apr 9.
Published in final edited form as: Nat Genet. 2017 Oct 9;49(11):1593–1601. doi: 10.1038/ng.3970

Figure 3. FLT4 loss-of-function mutations in Tetralogy of Fallot.

Figure 3

(a). Pedigrees of 10 CHD kindreds with rare FLT4 loss-of-function (LoF) mutations are shown. Subjects with and without CHD are shown as filled and unfilled symbols, respectively. Each kindred ID number is shown along with the FLT4 genotype of each subject and CHD phenotype of affected subjects. (b) Diagram of FLT4 protein is shown with seven immunoglobulin domains (Ig) and a kinase domain. The top panel shows LoF mutations associated with Tetralogy-type CHD, whereas the bottom panel displays missense mutations associated with the Milroy disease (Hereditary Lymphedema).