hrp0094p2-68 | Bone, growth plate and mineral metabolism | ESPE2021

Mutational analysis and genotype-phenotype correlation of the PHEX gene in Brazilian patients with X-linked hypophosphatemic rickets

Samartino Ana , Azevedo Eduardo , Peixinho Julha , Marcatto Fernanda , Silva Isabella , Nunes Julia , Carneiro Zumira , Hirose Thiago , Lourenco Charles ,

Background: X-Linked hypophosphatemic rickets (XLH) is a disorder of phosphate homeostasis, characterized by renal phosphate wasting and hypophosphatemia, with normal to low 1,25-dihydroxy vitamin D3 serum levels. PHEX is the gene defective in XLH and different mutations and genomic rearrangements have been described in different families affected by this disease.Objectives: To detect inactivating mutations in the PHEX g...