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. 2017 Mar 27;3(2):e145. doi: 10.1212/NXG.0000000000000145

Figure. Pedigree and genetics.

Figure

(A) Family pedigree: no clinical information is available on the parents of the proband; Sanger sequencing confirmed the presence of c.2267G>A; p.Arg756His (indicated by *) in the ATP1A3 gene in all affected family members and was absent in unaffected family members, II-1 and III-3 (indicated by [-]). (B) Validation of mutation by Sanger sequencing. Chromatograms showing segregation of the variant with disease: present in affected family members II-3, III-2, and IV-1 and absent in II-1 and III-3. (C) Mutation map of the ATP1A3 gene. ATP1A3 mutation map showing all published mutations associated with rapid-onset dystonia-parkinsonism (RDP) (top panel), CAPOS/CAOS (top panel; highlighted in green), and alternating hemiplegia of childhood (AHC) (bottom panel). Mutations underlined indicate frequently reported variants associated with the disease; mutations in our patients are indicated in red; amino acid positions 274, 583, 923, and 801 highlighted in blue are mutated in both RDP and AHC; * indicates intronic splice-site variant c.2542 +1G>A.