A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers

R. M. Patel, S. C S Nagamani, D. Cuthbertson, P. M. Campeau, J. P. Krischer, Jay Shapiro, R. D. Steiner, P. A. Smith, M. B. Bober, P. H. Byers, M. Pepin, M. Durigova, F. H. Glorieux, F. Rauch, B. H. Lee, T. Hart, V. R. Sutton

Research output: Contribution to journalArticle

Abstract

Osteogenesis imperfecta (OI) is the most common skeletal dysplasia that predisposes to recurrent fractures and bone deformities. In spite of significant advances in understanding the genetic basis of OI, there have been no large-scale natural history studies. To better understand the natural history and improve the care of patients, a network of Linked Clinical Research Centers (LCRC) was established. Subjects with OI were enrolled in a longitudinal study, and in this report, we present cross-sectional data on the largest cohort of OI subjects (n=544). OI type III subjects had higher prevalence of dentinogenesis imperfecta, severe scoliosis, and long bone deformities as compared to those with OI types I and IV. Whereas the mean lumbar spine area bone mineral density (LS aBMD) was low across all OI subtypes, those with more severe forms had lower bone mass. Molecular testing may help predict the subtype in type I collagen-related OI. Analysis of such well-collected and unbiased data in OI can not only help answering questions that are relevant to patient care but also foster hypothesis-driven research, especially in the context of 'phenotypic expansion' driven by next-generation sequencing.

Original languageEnglish (US)
Pages (from-to)133-140
Number of pages8
JournalClinical Genetics
Volume87
Issue number2
DOIs
StatePublished - Feb 1 2015

Fingerprint

Osteogenesis Imperfecta
North America
Multicenter Studies
Cross-Sectional Studies
Research
Natural History
Patient Care
Dentinogenesis Imperfecta
Bone and Bones
Bone Fractures
Scoliosis
Collagen Type I
Bone Density
Longitudinal Studies
Spine

Keywords

  • Bone mineral density in osteogenesis imperfecta
  • History study
  • Longitudinal study
  • Natural history study
  • Osteogenesis imperfecta

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)

Cite this

Patel, R. M., Nagamani, S. C. S., Cuthbertson, D., Campeau, P. M., Krischer, J. P., Shapiro, J., ... Sutton, V. R. (2015). A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers. Clinical Genetics, 87(2), 133-140. https://doi.org/10.1111/cge.12409

A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers. / Patel, R. M.; Nagamani, S. C S; Cuthbertson, D.; Campeau, P. M.; Krischer, J. P.; Shapiro, Jay; Steiner, R. D.; Smith, P. A.; Bober, M. B.; Byers, P. H.; Pepin, M.; Durigova, M.; Glorieux, F. H.; Rauch, F.; Lee, B. H.; Hart, T.; Sutton, V. R.

In: Clinical Genetics, Vol. 87, No. 2, 01.02.2015, p. 133-140.

Research output: Contribution to journalArticle

Patel, RM, Nagamani, SCS, Cuthbertson, D, Campeau, PM, Krischer, JP, Shapiro, J, Steiner, RD, Smith, PA, Bober, MB, Byers, PH, Pepin, M, Durigova, M, Glorieux, FH, Rauch, F, Lee, BH, Hart, T & Sutton, VR 2015, 'A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers', Clinical Genetics, vol. 87, no. 2, pp. 133-140. https://doi.org/10.1111/cge.12409
Patel, R. M. ; Nagamani, S. C S ; Cuthbertson, D. ; Campeau, P. M. ; Krischer, J. P. ; Shapiro, Jay ; Steiner, R. D. ; Smith, P. A. ; Bober, M. B. ; Byers, P. H. ; Pepin, M. ; Durigova, M. ; Glorieux, F. H. ; Rauch, F. ; Lee, B. H. ; Hart, T. ; Sutton, V. R. / A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers. In: Clinical Genetics. 2015 ; Vol. 87, No. 2. pp. 133-140.
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