title: Newly discovered mutations in the GALNT3 gene causing autosomal  recessive hyperostosis-hyperphosphatemia syndrome.
abstract: OBJECTIVE
  Periosteal new bone formation and cortical hyperostosis often suggest an initial diagnosis of bone malignancy or osteomyelitis. In the present study, we investigated the cause of persistent bone hyperostosis in the offspring of two consanguineous parents.
  
  
  METHODS
  Clinical assessment, imaging, and direct sequencing were used to elucidate the etiology of the condition seen in the patient.
  
  
  RESULTS
  Radiological examination revealed periosteal reaction, diaphysitis, and cortical hyperostosis, suggesting osteomyelitis or a bone neoplasm. The clinical and radiological features were also reminiscent of hyperostosis with hyperphosphatemia (HHS), a rare autosomal recessive disease manifesting with recurrent, transient, and painful swelling of the long bones. The identification of two novel heterozygous pathogenic mutations in the GALNT3 gene confirmed a diagnosis of HHS.
  
  
  CONCLUSIONS
  Molecular analysis represents an invaluable tool in the differential diagnosis of persistent cortical hyperostosis.
authors.affiliation: Department of Pediatric Nephrology, Gulhane Military Medical School, Ankara, Turkey.
authors.forename: Faysal
authors.initials: F
authors.lastname: Gok
authors.forename: Ilana
authors.initials: I
authors.lastname: Chefetz
authors.forename: Margarita
authors.initials: M
authors.lastname: Indelman
authors.forename: Murat
authors.initials: M
authors.lastname: Kocaoglu
authors.forename: Eli
authors.initials: E
authors.lastname: Sprecher
mesh_terms: D002114:Calcinosis / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D002648:Child; D003241:Consanguinity; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D015576:Hyperostosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000378:metabolism; D054559:Hyperphosphatemia / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D008297:Male; D017350:N-Acetylgalactosaminyltransferases / Q000235:genetics*; D011859:Radiography; D013577:Syndrome; D013977:Tibia / Q000000981:diagnostic imaging; D000097763:Polypeptide N-acetylgalactosaminyltransferase
chemical_list: D017350:N-Acetylgalactosaminyltransferases; D000097763:Polypeptide N-acetylgalactosaminyltransferase