Recessive mutation in GALNT3 causes hyperphosphatemic familial tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis

Özet

Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessivedisorder that is characterized by persistent hyperphosphatemia andextra-articular calcifications. Three cases were previously reported withhyperphosphatemic familial tumoral calcinosis that were associated withchronic recurrent multifocal osteomyelitis, an autoinflammatory disorderthat is characterized by recurrent episodes of bone pain. We describe herean 11-year-old child who was diagnosed with these two conditions and wasfound to carry a splice site mutation c.1524+1G>A in the GALNT3 gene.