Article
Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis.
American journal of medical genetics. Part A - 1 Sept 2014
Mumm Steven, Huskey Margaret, Duan Shenghui, Wenkert Deborah, Madson Katherine L, Gottesman Gary S, Nenninger Angela R, Laxer Ronald M, McAlister William H, Whyte Michael P
Abstract excerpt
Multicentric carpotarsal osteolysis syndrome (MCTO), an autosomal dominant disorder that often presents sporadically, features carpal-tarsal lysis frequently followed by nephropathy and renal failure. In 2012, mutations in the single-exon gene MAFB were reported in 13 probands with MCTO. MAFB is a negative regulator of RANKL-mediated osteoclastogenesis. We studied nine MCTO patients (seven sporadic patients and...
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