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Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare form of skeletal dysplasia characterized by progressive bone resorption, in the carpal and tarsal bones. Patients may develop chronic kidney disease, which eventually advances to end-stage renal disease (ESRD). Both sporadic and familial cases of autosomal-dominant inheritance are reported in literature. Here, we report a case of a 10.5-year-old boy who presented with CKD stage V, and who suffered from bone deformities and difficulty in walking at a younger age. He was diagnosed with MCTO and subjected to genetic analysis. We identified a novel mutation (NM_005461.5:c.173C > G) in the exon 1 of MAFB using next-generation sequencing. However, the mutation was not detected in his asymptomatic parents or siblings. This novel heterozygous mutation has not been reported previously. Our results show that the new mutation broadens the spectrum of disease phenotypes. This mutation may be helpful to confirm the potential cases of MCTO, which although can be identified through radiographic findings, stand a high chance of being misdiagnosed as rheumatological disease or as a metabolic bone disease secondary to CKD. Copyright © 2020 Elsevier Masson SAS. All rights reserved.


Jun Li, Lina Shi, Keith Lau, Yijiao Ma, Shilei Jia, Xiaojie Gao. Identification of a novel mutation in the MAFB gene in a pediatric patient with multicentric carpotarsal osteolysis syndrome using next-generation sequencing. European journal of medical genetics. 2020 Jun;63(6):103902

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PMID: 32278749

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