Pedigrees and characterization of the mutations. (A) Segregation of the mutations in the six pedigrees. Filled symbols show affected patients, grey the asymptomatic individuals. Asterisks indicate patients for whom whole-exome sequencing was performed, and numbers refer to the patients’ codes. M1 = p.G389R mutation (red), M2 = p.E327G mutation (blue), + = wild-type. (B) Schematic representation of NP1 protein with the positions of both variants relative to the known functional domains. (C) Alignment of NP1 protein sequences surrounding the p.E327G and p.G389R mutations in various species. The arrowhead points to the mutated amino acid. (D) Alignment of NP1 protein sequences surrounding the p.E327G and p.G389R mutations among other members of the pentraxin family in human. The arrowhead points to the mutated amino acid.