Skip to main content
. 2019 Feb 25;11(3):e9324. doi: 10.15252/emmm.201809324

Figure 1. Mutations in OTULIN in a new case of OTULIN‐related autoinflammatory syndrome (ORAS).

Figure 1

  • A
    Segregation of the inflammatory symptoms (filled symbols) and the c.841G>A substitution in OTULIN in the affected kindred. ○, females; □, males; double lines, consanguineous relationship. Probands I.2 and I.3 are monozygotic twins. Roman numerals indicate generations.
  • B
    Schematic representation of the symptoms and clinical presentation of patient III.2.
  • C
    OTULIN DNA sequence chromatograms showing the homozygous single base substitution (c.841G>A, p.Gly281Arg, arrowhead). Data are representative to two independent experiments.