> Details

Mehawej, Cybel; Courcet, Jean‐Benoît; Baujat, Geneviève; Mouy, Richard; Gérard, Marion; Landru, Isabelle; Gosselin, Morgane; Koehrer, Philippe; Mousson, Christiane; Breton, Sylvain; Quartier, Pierre; Le Merrer, Martine; Faivre, Laurence; Cormier‐Daire, Valérie

The identification of MAFB mutations in eight patients with multicentric carpo–tarsal osteolysis supports genetic homogeneity but clinical variability

Reference
management

Bookmarks

Remove from
bookmarks

Share this on Whatsapp

Close

Bookmarks



You can manage bookmarks using lists, please log in to your user account for this.
  • Media type: E-Article
  • Title: The identification of MAFB mutations in eight patients with multicentric carpo–tarsal osteolysis supports genetic homogeneity but clinical variability
  • Contributor: Mehawej, Cybel; Courcet, Jean‐Benoît; Baujat, Geneviève; Mouy, Richard; Gérard, Marion; Landru, Isabelle; Gosselin, Morgane; Koehrer, Philippe; Mousson, Christiane; Breton, Sylvain; Quartier, Pierre; Le Merrer, Martine; Faivre, Laurence; Cormier‐Daire, Valérie
  • imprint: Wiley, 2013
  • Published in: American Journal of Medical Genetics Part A
  • Language: English
  • DOI: 10.1002/ajmg.a.36151
  • ISSN: 1552-4825; 1552-4833
  • Origination:
  • Footnote:
  • Description: <jats:title>Abstract</jats:title><jats:sec><jats:label /><jats:p>Multicentric carpo–tarsal osteolysis (MCTO) with or without nephropathy is a rare osteolysis disorder beginning in early childhood and involving mainly carpal and tarsal bones. Renal disease appears later in life in the majority of cases and evolves quickly to end stage renal failure. Autosomal dominant (AD) inheritance has been demonstrated, with a high frequency of sporadic cases. Recently, mutations in a highly conserved region of the <jats:italic>MAFB</jats:italic> gene (v‐maf musculoaponeurotic fibrosarcoma oncogene ortholog B) have been identified in MCTO patients by exome sequencing. MafB, known as a regulator of various developmental processes, is essential for osteoclastogenesis and renal development. We report here the molecular screening of <jats:italic>MAFB</jats:italic> in eight MCTO patients from six families. We identified <jats:italic>MAFB</jats:italic> mutations in all, including three novel missense mutations clustering within the hot spot mutation region. Among the eight patients, six only presented renal disease. Our report confirms the genetic homogeneity of MCTO and provides data underlying the clinical variability of this disorder. © 2013 Wiley Periodicals, Inc.</jats:p></jats:sec>