Multicentric carpotarsal osteolysis syndrome

Definition:

Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare skeletal dysplasia characterized by progressive bone resorption (osteolysis), predominantly (although not exclusively) of the carpal and tarsal bones. The early clinical appearance can mimic polyarticular juvenile idiopathic arthritis; however, subsequent clinical and radiographic appearances are characteristic. Clinical manifestations comprise aggressive osteolysis of the carpal and tarsal bones, an often progressive nephropathy leading to end-stage renal disease, craniofacial anomalies and mental impairment. Both simplex cases and families with autosomal-dominant inheritance have been reported. Recently, heterozygous missense mutations in the MAFB gene have been causally related to MCTO patients.

References:

[1]. Andreas Zankl, et al. Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. Am J Hum Genet. 2012 Mar 9;90(3):494-501. [Content Brief]

[2]. D B SHURTLEFF, et al. HEREDITARY OSTEOLYSIS WITH HYPERTENSION AND NEPHROPATHY. JAMA. 1964 Apr 27;188:363-8. [Content Brief]

[3]. Gabriel C Dworschak, et al. An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome. Int J Mol Med. 2013 Jul;32(1):174-8. [Content Brief]

[4]. Steven Mumm, et al. Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis. Am J Med Genet A. 2014 Sep;164A(9):2287-93. [Content Brief]

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