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

Cristina Sobacchi, Annalisa Frattini* (Corresponding Author), 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 Coxon, Debbie I. Scott, Anna Teti, Michael John Rogers, Paolo Vezzoni, Anna VillaMarie Hermine Helfrich

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

325 Citations (Scopus)


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
Early online date15 Jul 2007
Publication statusPublished - 1 Aug 2007


  • autosomal recessive osteopetrosis
  • mice
  • deficiency
  • regulator
  • defects
  • rescue
  • mouse


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