Fig. 2
Distinct biallelic DEF6 mutations segregate with disease. a, b Segregation pedigrees and chromatograms of the identified DEF6 mutations in family A (a, variant c.G991A) and family B (b, variant c.T628G). All depicted individuals were validated by capillary sequencing. Unfilled – wild type; filled – homozygous mutation; half filled – heterozygous state.? – unknown genetic state (not sequenced). For information on the variants, see Supplementary Table S1. c Schematic of DEF6 protein domains indicating the identified mutations. PH – Pleckstrin homology domain; DH – Dbl homology domain. d DEF6E331K mutant protein expression is partially reduced in feeder-expanded T cells of P1. e DEF6Y210D mutant protein is barely detectable in T cells of P3 (long exposure is shown). Shorter-exposed immunoblots for (e) are shown in Supplementary Figure S2a. Immunoblots for (d) and (e) were cropped for visualization and are representative of two independent experiments. Source data of Fig. 2 including uncropped immunoblots are provided as a Supplementary Source Data file
