Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL

Cristina Sobacchi, Annalisa Frattini, Matteo M. Guerrini, Mario Abinun, Alessandra Pangrazio, Lucia Susani, Robbert Bredius, Grazia Mancini, Andrew Cant, Nick Bishop, Peter Grabowski, Andrea Del Fattore, Chiara Messina, Gabriella Errigo, Fraser P. Coxon, Debbie I. Scott, Anna Teti, Michael J. Rogers, Paolo Vezzoni, Anna VillaMiep H. Helfrich

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)960-962
Number of pages3
JournalNature Genetics
Issue number8
Publication statusPublished - Aug 2007

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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