How to Cite this Article: Laine CM, Koltin D, Susic M, Varley TL, Daneman A, Moineddin R, Cole WG, Mäkitie O, Sochett E. 2012. Primary osteoporosis without features of OI in children and adolescents: Clinical and genetic characteristics. Am J Med Genet Part A. 158A:1252–1261.
Primary osteoporosis without features of OI in children and adolescents: Clinical and genetic characteristics†
Version of Record online: 17 APR 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 6, pages 1252–1261, June 2012
How to Cite
Laine, C. M., Koltin, D., Susic, M., Varley, T. L., Daneman, A., Moineddin, R., Cole, W. G., Mäkitie, O. and Sochett, E. (2012), Primary osteoporosis without features of OI in children and adolescents: Clinical and genetic characteristics. Am. J. Med. Genet., 158A: 1252–1261. doi: 10.1002/ajmg.a.35278
- Issue online: 17 MAY 2012
- Version of Record online: 17 APR 2012
- Manuscript Accepted: 19 DEC 2011
- Manuscript Received: 11 OCT 2010
- Folkhälsan Research Foundation
- Academy of Finland
- Helsinki University Hospital Research Funds
- Canadian Institutes of Health Research, Canada
- juvenile osteoporosis;
Our aim was to characterize clinical findings and familial associations, and to examine candidate genes for disease-causing mutations in a cohort of children suffering from primary osteoporosis without features of osteogenesis imperfecta. Patients with osteoporosis and their nuclear families were studied. Medical history was reviewed. Calcium homeostasis parameters were measured and spinal radiographs obtained. BMD was determined by DXA for patients, parents and siblings. LRP5, LRP6, and PTHLH genes were sequenced. Twenty-seven patients (14 males) from 24 families were recruited. Median age at presentation was 10.1 years (range 3.3–15.6 years). One-third of the children had at least one parent with a BMD below the expected range for age. LRP5, LRP6, and PTHLH showed no causative mutations. Four polymorphisms in LRP5 were overrepresented in patients; the minor allele frequency of Q89R, V667M, N740N, and A1330V was significantly higher than in controls. Age of onset, clinical severity, and inheritance patterns are variable in children with primary osteoporosis. Several patients had evidence suggestive of familial transmission. The underlying genetic factors remain to be elucidated. © 2012 Wiley Periodicals, Inc.