Fig. 1.

A private homozygous missense mutation in siblings with JRRP and dermatologic abnormalities. (A) Pedigree showing NLRP1 genotype of individuals. (B) Clinical images of P1 showing (from left to right) larynx papillomas, atrophoderma vermiculata on cheeks, plantar warts, and keratosis pilaris on buttocks and thighs. (C) Micrographs of a larynx papilloma from P1 showing (from left to right) gross morphology of papillomas, areas of binucleated cells (Insets: enlarged), and focal areas of koilocytosis (arrows). (D) Schematic representation of NLRP1 protein showing functional domains, location of patients’ T755N mutations (red), and location of previously described NLRP1 mutations (blue) and their mode of inheritance (AD, AR, or codominant [CoD]). (E) Protein sequencing alignment of human NLRP1 to known orthologs, showing conservation of T755.