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- Title
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.
- Authors
Sobacchi, Cristina; Frattini, Annalisa; Guerrini, Matteo M.; Abinun, Mario; Pangrazio, Alessandra; Susani, Lucia; Bredius, Robbert; Mancini, Grazia; Cant, Andrew; Bishop, Nick; Grabowski, Peter; del Fattore, Andrea; Messina, Chiara; Errigo, Gabriella; Coxon, Fraser P.; Scott, Debbie I.; Teti, Anna; Rogers, Michael J.; Vezzoni, Paolo; Villa, Anna
- Abstract
Autosomal recessive osteopetrosis is usually associated with normal or elevated numbers of nonfunctional osteoclasts. Here we report mutations in the gene encoding RANKL (receptor activator of nuclear factor–KB ligand) in six individuals with autosomal recessive osteopetrosis whose bone biopsy specimens lacked osteoclasts. These individuals did not show any obvious defects in immunological parameters and could not be cured by hematopoietic stem cell transplantation; however, exogenous RANKL induced formation of functional osteoclasts from their monocytes, suggesting that they could, theoretically, benefit from exogenous RANKL administration.
- Subjects
HUMAN chromosome abnormalities; OSTEOPETROSIS; OSTEOCLASTS; IMMUNOLOGICAL deficiency syndromes; HEMATOPOIETIC stem cells; BONE cells
- Publication
Nature Genetics, 2007, Vol 39, Issue 8, p960
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng2076