Biomarker Genes in Autosomal Dominant Osteopetrosis Type II (ADO II)

  • Amélie E. CoudertEmail author
  • Marie-Christine de VernejoulEmail author
Reference work entry
Part of the Biomarkers in Disease: Methods, Discoveries and Applications book series (BDMDA)


Type II autosomal dominant osteopetrosis (ADO II) is a rare genetic disease characterized by an increase in bone mass. This pathology is caused by osteoclast impairment due, in 60% of cases, to CLCN7 heterozygous mutations. ADO II patients present specific X-ray features, but until recently the disease lacked biological markers. It has been demonstrated that elevated serum tartrate-resistant acid phosphatase (TRAP) could be a good marker. In addition, microarray analysis and various validation experiments comparing gene expression levels in osteoclasts from ADO II patients and healthy donors have demonstrated that ITGB5 expression is increased in the former and that PFR1, SERPINE2, and WARS expression are all decreased in ADO II osteoclasts. Of these new biological markers, two are described for the first time in osteoclasts.


Osteopetrosis Osteoclasts CLCN7 Microarray Biological markers 

List of Abbreviations


Autosomal dominant osteopetrosis type II


Cystathionine βsynthase


Chloride channel 7


Extracellular matrix


Macrophage colony-stimulating factor


Tartrate-resistant acid phosphatase


Vacuolar ATPase proton pump


Tryptophanyl-tRNA synthetase


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© Springer Science+Business Media Dordrecht 2017

Authors and Affiliations

  1. 1.Molecular Oral Pathophysiology, INSERM UMRS 1138Centre de Recherche des Cordeliers, UFR d’Odontologie, Université Paris DiderotParisFrance
  2. 2.BIOSCAR, INSERM UMRS 1132Hôpital Lariboisière, Université Paris Diderot, Secteur Violet, Porte 4, Bâtiment Viggo PetersenParisFrance

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