Figure 2

PHEX and FBN1 mutations identified in the current family. a Pedigree of the included family. The PHEX and FBN1 genotypes for all included members were annotated. Black filled, grey filled, and blank symbols represent X-linked hypophosphatemia, Marfan syndrome, and unaffected status, respectively. b DNA sequencing profiles for the identified disease-causing mutations in the PHEX gene (left panel) and the FBN1 gene (right panel). c Orthologous protein sequence alignment of PHEX from seven species. Conserved residues are shaded. The mutated residue 792 is boxed and indicated. d–e Structural modeling of the wild type and mutant fibrillin-1. One hydrogen bond in the wide type protein was eliminated due to the substitution from cysteine to phenylalanine at residue 792.