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Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis

(2006) HUMAN MUTATION. 27(3). p.290-290
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Abstract
To further explore the allelic heterogeneity within the group of LEMD3-related disorders, we have screened a larger series of patients including 5 probands with osteopoikilosis or Buschke-Ollendorff syndrome (BOS), 2 families with the co-occurrence of melorheostosis and BOS, and 12 unrelated patients with isolated melorheostosis. Seven novel LEMD3 mutations were identified, all predicted to result in loss-of-function of the protein. We confirm that loss-of-function mutations in the LEMD3 gene can result in either osteopoikilosis or BOS. However, LEMD3 germline mutations were only found in two melorheostosis patients belonging to a different BOS family and one sporadic patient with melorheostosis. The additional presence of osteopoikilosis lesions in these patients seemed to distinguish them from the group of sporadic melorheostosis patients where no germline LEMD3 mutation was identified. Somatic mosaicism for a LEMD3 mutation in the latter group was also not observed, and therefore we must conclude that the genetic defect in the majority of sporadic and isolated melorheostosis remains unknown

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Chicago
HELLEMANS, JAN, Philippe Debeer, Michael Wright, Andreas Janecke, Klaus W Kjaer, Peter Verdonk, Ravi Savarirayan, et al. 2006. “Germline LEMD3 Mutations Are Rare in Sporadic Patients with Isolated Melorheostosis.” Human Mutation 27 (3): 290–290.
APA
HELLEMANS, J., Debeer, P., Wright, M., Janecke, A., Kjaer, K. W., Verdonk, P., Savarirayan, R., et al. (2006). Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis. HUMAN MUTATION, 27(3), 290–290.
Vancouver
1.
HELLEMANS J, Debeer P, Wright M, Janecke A, Kjaer KW, Verdonk P, et al. Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis. HUMAN MUTATION. 2006;27(3):290–290.
MLA
HELLEMANS, JAN, Philippe Debeer, Michael Wright, et al. “Germline LEMD3 Mutations Are Rare in Sporadic Patients with Isolated Melorheostosis.” HUMAN MUTATION 27.3 (2006): 290–290. Print.
@article{483899,
  abstract     = {To further explore the allelic heterogeneity within the group of LEMD3-related disorders, we have screened a larger series of patients including 5 probands with osteopoikilosis or Buschke-Ollendorff syndrome (BOS), 2 families with the co-occurrence of melorheostosis and BOS, and 12 unrelated patients with isolated melorheostosis. Seven novel LEMD3 mutations were identified, all predicted to result in loss-of-function of the protein. We confirm that loss-of-function mutations in the LEMD3 gene can result in either osteopoikilosis or BOS. However, LEMD3 germline mutations were only found in two melorheostosis patients belonging to a different BOS family and one sporadic patient with melorheostosis. The additional presence of osteopoikilosis lesions in these patients seemed to distinguish them from the group of sporadic melorheostosis patients where no germline LEMD3 mutation was identified. Somatic mosaicism for a LEMD3 mutation in the latter group was also not observed, and therefore we must conclude that the genetic defect in the majority of sporadic and isolated melorheostosis remains unknown},
  author       = {HELLEMANS, JAN and Debeer, Philippe and Wright, Michael and Janecke, Andreas and Kjaer, Klaus W and Verdonk, Peter and Savarirayan, Ravi and Basel, Lina and Moss, Celia and Roth, Johannes and David, Albert and De Paepe, Anne and Coucke, Paul and Mortier, Geert},
  issn         = {1098-1004},
  journal      = {HUMAN MUTATION},
  language     = {eng},
  number       = {3},
  pages        = {290--290},
  title        = {Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis},
  url          = {http://dx.doi.org/10.1002/humu.9403},
  volume       = {27},
  year         = {2006},
}

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