{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T08:16:09Z","timestamp":1776932169543,"version":"3.51.2"},"reference-count":19,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T00:00:00Z","timestamp":1376611200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Multicentric carpo\u2013tarsal 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\u2010maf 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. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36151","type":"journal-article","created":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T17:28:56Z","timestamp":1376674136000},"page":"3023-3029","source":"Crossref","is-referenced-by-count":34,"title":["The identification of <i>MAFB<\/i> mutations in eight patients with multicentric carpo\u2013tarsal osteolysis supports genetic homogeneity but clinical variability"],"prefix":"10.1002","volume":"161","author":[{"given":"Cybel","family":"Mehawej","sequence":"first","affiliation":[{"name":"D\u00e9partement de g\u00e9n\u00e9tique, INSERM U781 Universit\u00e9 Paris Descartes\u2014Sorbonne Paris Cit\u00e9, Institut Imagine, H\u00f4pital Necker Enfants Malades Paris 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