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  RANK-dependent autosomal recessive osteopetrosis: characterisation of 5 new cases with novel mutations

Pangrazio, A., Cassani, B., Guerrini, M. M., Crockett, J. C., Marrella, V., Zammataro, L., et al. (2011). RANK-dependent autosomal recessive osteopetrosis: characterisation of 5 new cases with novel mutations. J Bone Miner Res. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/22072319 http://onlinelibrary.wiley.com/store/10.1002/jbmr.559/asset/559_ftp.pdf?v=1&t=gyzw6b85&s=cb0fd1b5de3985ed67eed1c26b4ca9ae1842ffdc.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7846-3 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7847-1
Genre: Journal Article

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Pangrazio, A., Author
Cassani, B., Author
Guerrini, M. M., Author
Crockett, J. C., Author
Marrella, V., Author
Zammataro, L., Author
Strina, D., Author
Schulz, A., Author
Schlack, C., Author
Kornak, U.1, Author              
Mellis, D. J., Author
Duthie, A., Author
Helfrich, M. H., Author
Durandy, A., Author
Moshous, D., Author
Vellodi, A., Author
Chiesa, R., Author
Veys, P., Author
Iacono, N. L., Author
Vezzoni, P., Author
Fischer, A.2, Author              Villa, A., AuthorSobacchi, C., Author more..
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              
2Cancer Genomics (Michal-Ruth Schweiger), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479649              

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 Abstract: Autosomal Recessive Osteopetrosis (ARO) is a genetically heterogeneous disorder due to reduced bone resorption by osteoclasts. Most human AROs are classified as osteoclast-rich, but recently 2 subsets of osteoclast-poor ARO have been recognised as due to defects in either TNFSF11 or TNFRSF11A genes, coding the RANKL and RANK proteins, respectively. The RANKL/RANK axis drives osteoclast differentiation and also plays a role in the immune system. In fact, we have recently reported that mutations in the TNFRSF11A gene lead to osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Here we present the characterisation of 5 additional unpublished patients from 4 unrelated families in which we found 5 novel mutations in the TNFRSF11A gene, including 2 missense and 2 nonsense mutations and a single-nucleotide insertion. Immunological investigation in 3 of them showed that the previously described defect in the B cell compartment was present only in some patients and that its severity seemed to increase with age and the progression of the disease. HSCT performed in all 5 patients almost completely cured the disease even when carried out in late infancy. Hypercalcaemia was the most important post-transplant complication. Overall, our results further underline the heterogeneity of human ARO also deriving from the interplay between bone and the immune system, and highlight the prognostic and therapeutic implications of the molecular diagnosis. (c) 2011 American Society for Bone and Mineral Research.

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 Dates: 2011
 Publication Status: Published in print
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Title: J Bone Miner Res
Source Genre: Journal
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Pages: - Volume / Issue: - Sequence Number: - Start / End Page: - Identifier: ISSN: 1523-4681 (Electronic) 0884-0431 (Linking)