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EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

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Abstract
Osteogenesis imperfecta (OI) comprises a group of inherited disorders characterized by bone fragility and increased susceptibility to fractures. Historically, the laboratory confirmation of the diagnosis OI rested on cultured dermal fibroblasts to identify decreased or abnormal production of abnormal type I (pro)collagen molecules, measured by gel electrophoresis. With the discovery of COL1A1 and COL1A2 gene variants as a cause of OI, sequence analysis of these genes was added to the diagnostic process. Nowadays, OI is known to be genetically heterogeneous. About 90% of individuals with OI are heterozygous for causative variants in the COL1A1 and COL1A2 genes. The majority of remaining affected individuals have recessively inherited forms of OI with the causative variants in the more recently discovered genes CRTAP, FKBP10, LEPRE1,PLOD2, PPIB, SERPINF1, SERPINH1 and SP7, or in other yet undiscovered genes. These advances in the molecular genetic diagnosis of OI prompted us to develop new guidelines for molecular testing and reporting of results in which we take into account that testing is also used to ‘exclude' OI when there is suspicion of non-accidental injury. Diagnostic flow, methods and reporting scenarios were discussed during an international workshop with 17 clinicians and scientists from 11 countries and converged in these best practice guidelines for the laboratory diagnosis of OI.
Keywords
reporting, diagnosis, best practice, EMQN, type I pro)collagen, osteogenesis imperfecta, COLLAGEN MUTATION DATABASE, BRITTLE BONE-DISEASE, COL1A1 NULL-ALLELE, I COLLAGEN, BRUCK-SYNDROME, CYCLOPHILIN-B, CHILD-ABUSE, IDENTIFICATION, HETEROGENEITY, LETHAL

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Chicago
van Dijk, Fleur, Peter Byers, Raymond Dalgleish, Fransiska Malfait, Alessandra Maugeri, Marianne Rohrbach, Sofie Symoens, Erik Sistermans, and Gerard Pals. 2012. “EMQN Best Practice Guidelines for the Laboratory Diagnosis of Osteogenesis Imperfecta.” European Journal of Human Genetics 20 (1): 11–19.
APA
van Dijk, F., Byers, P., Dalgleish, R., Malfait, F., Maugeri, A., Rohrbach, M., Symoens, S., et al. (2012). EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta. EUROPEAN JOURNAL OF HUMAN GENETICS, 20(1), 11–19.
Vancouver
1.
van Dijk F, Byers P, Dalgleish R, Malfait F, Maugeri A, Rohrbach M, et al. EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta. EUROPEAN JOURNAL OF HUMAN GENETICS. 2012;20(1):11–9.
MLA
van Dijk, Fleur, Peter Byers, Raymond Dalgleish, et al. “EMQN Best Practice Guidelines for the Laboratory Diagnosis of Osteogenesis Imperfecta.” EUROPEAN JOURNAL OF HUMAN GENETICS 20.1 (2012): 11–19. Print.
@article{4115643,
  abstract     = {Osteogenesis imperfecta (OI) comprises a group of inherited disorders characterized by bone fragility and increased susceptibility to fractures. Historically, the laboratory confirmation of the diagnosis OI rested on cultured dermal fibroblasts to identify decreased or abnormal production of abnormal type I (pro)collagen molecules, measured by gel electrophoresis. With the discovery of COL1A1 and COL1A2 gene variants as a cause of OI, sequence analysis of these genes was added to the diagnostic process. Nowadays, OI is known to be genetically heterogeneous. About 90\% of individuals with OI are heterozygous for causative variants in the COL1A1 and COL1A2 genes. The majority of remaining affected individuals have recessively inherited forms of OI with the causative variants in the more recently discovered genes CRTAP, FKBP10, LEPRE1,PLOD2, PPIB, SERPINF1, SERPINH1 and SP7, or in other yet undiscovered genes. These advances in the molecular genetic diagnosis of OI prompted us to develop new guidelines for molecular testing and reporting of results in which we take into account that testing is also used to {\textquoteleft}exclude' OI when there is suspicion of non-accidental injury. Diagnostic flow, methods and reporting scenarios were discussed during an international workshop with 17 clinicians and scientists from 11 countries and converged in these best practice guidelines for the laboratory diagnosis of OI.},
  author       = {van Dijk, Fleur and Byers, Peter and Dalgleish, Raymond and Malfait, Fransiska and Maugeri, Alessandra and Rohrbach, Marianne and Symoens, Sofie and Sistermans, Erik and Pals, Gerard},
  issn         = {1018-4813},
  journal      = {EUROPEAN JOURNAL OF HUMAN GENETICS},
  language     = {eng},
  number       = {1},
  pages        = {11--19},
  title        = {EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta},
  volume       = {20},
  year         = {2012},
}

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