Bone Abstracts

Rett (RTT) syndrome is a neurodevelopmental disorder that affects girls almost exclusively. The majority are related to mutations in the MECP2 gene.Patients with RTT syndrome have a high incidence of fractures that can occur at a young age. One of the objectives of this study was to identify clinical, radiographic and biological parameters associated to fracture incidence.89 RTT patients bearing a MECP2 mutation who had no...

Mutations in PHEX and specific missense mutations of FGF23 result in elevated circulating FGF23 and hypophosphatemic rickets, respectively X-linked hypophosphatemic rickets (XLHR) and autosomal dominant HR (ADHR). FGF23, secreted by osteoblasts and osteocytes, regulates phosphate handling and vitamin D metabolism through its action on kidney. Extra renal effects of FGF23, including bone, have been very recently suspected mainly from overexpression or underexpression of FGF23 i...