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. Author manuscript; available in PMC: 2023 Jun 26.
Published in final edited form as: Neuron. 2018 Dec 18;101(3):429–443.e4. doi: 10.1016/j.neuron.2018.11.041

Figure 1. Protein-altering de novo KEL mutations in Vein of Galen malformation (VOGM).

Figure 1.

(A) Representative digital subtraction angiography images demonstrating mural and choroidal VOGMs in KVGAM45–1 and KVGAM10–1, respectively.

(B) Pedigrees depicting kindred structures. Note that probands carrying de novo mutations in KEL are the only members of families KVGAM45 and KVGAM10 with VOGMs; none of the family members in these two families have any disease phenotypes or cutaneous manifestations. Red ‘D’ denotes protein-altering mutation, ‘+’ denotes wild type sequence.

(C) Mutations identified by exome sequencing were confirmed by direct PCR amplification with custom primers followed by Sanger sequencing.

(D) Linear representation of the KEL polypeptide, with functional domains as dark rectangles. Amino acid modifications are mapped (in red) on the protein structure. Conservation of the wild-type amino acid substituted by the missense mutations is depicted below. TM = Transmembrane domain.