We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome.
- Authors
Gok, Faysal; Chefetz, Ilana; Indelman, Margarita; Kocaoglu, Murat; Sprecher, Eli
- Abstract
Background and purpose 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. Interpretation Molecular analysis represents an invaluable tool in the differential diagnosis of persistent cortical hyperostosis.
- Publication
Acta Orthopaedica, 2009, Vol 80, Issue 1, p131
- ISSN
1745-3674
- Publication type
Article
- DOI
10.1080/17453670902807482