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

Abstract

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

Keywords

• calcinosis
• hyperphosphatemia
• osteomyelitis