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. 2021 Jan 21;7(1):e548. doi: 10.1212/NXG.0000000000000548

Figure 1. Pedigree Drawing of the Family.

Figure 1

Sex has been masked, and the number and order of siblings altered to protect participants' confidentiality. Black diamonds represent affected individuals, gray diamonds individuals not examined, and white diamonds clinically unaffected individuals. Diamonds with round circle denote uncertain status. A dot at the left inferior edge of a diamond means the individual was genetically analyzed. A diagonal line indicates that the individual is deceased. A total of 20 individuals were studied (II.1–3; III.3–7, 11, 17–20, 22–24; IV.1–3). Eight affected (II.3, III.4, 11, 17–20, 22), 2 unaffected (III.23 and 24), and 5 relatives with undetermined clinical status (III.6,7; IV.1, IV.3) were studied in person. Medical records were also retrieved from (II.1,2; III.3,16; and IV.2). DNA was obtained for 14 individuals and for 12 of them (III.4–7, 11, 17–20, 22–24) was analyzed in this study, whereas individuals IV.1 and IV.3 were not analyzed genetically because of their young age. Skin biopsies from 5 affected (III.11, 18–20, 22) and 1 unaffected individual (III.24) were examined. Sg = Sanger sequencing of the MAP3K6 c.322G>A p.(Asp108Asn) variant; Mut = the mutated variant is present; WES = whole-exome sequencing; WGS = whole-genome sequencing; Wt = wild type.