PMC8264138_01
Pedigree analysis, clinical manifestations of the proband and her daughter, and the results of whole-exome sequencing. (A) Genealogical tree of the family, showing the affected individuals (filled symbols), healthy subjects (empty symbols), the proband (III 5, black arrow), DNA samples collected (*marked, to which individual III 9 refused), subjects with positive NLRP3 gene mutation (+ marked). (B) Manifestations of the proband and her daughter, with colored bands representing the duration of symptoms. (C-J) Whole-exome sequencing by Next Generation Sequencing of the NLRP3-AID patients, showing the heterozygous mutation NLRP3 (NM_001243133.1): c.1316C>T (p.Ala439Val) and that of the controls.
fmed-08-695197-g0002.jpg
PMC8264138_01_fmed-08-695197-g0002.jpg
F2
Pedigree analysis revealed five relatives who had similar symptoms, including her father (II 5), an uncle (II 7), a brother (III 7), a cousin (III 9), and her daughter (IV 3) (Figure 2A). The disease course and manifestations of the proband and her daughter were indicated in Figure 2B. Whole-exome sequencing by NGS identified a heterozygous mutation c.1316C>T, p.Ala439Val of the NLRP3 gene (NM_001243133.1) in the proband (III 5), her father (II 5), her brother (III 7), and her daughter (IV 3) (Figures 2C-J).