ArticleAmerican journal of human genetics2012
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 59 papers.
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Who cites it
59 citing papers in PubMed, 112 citations in OpenAlex.
- Genetic background modulates MafADiabetologia · 2026Article
- Review
- Broadening the Phenotypic Spectrum ofGenes · 2026Article
- Uncovering the molecular and immunological defects in multicentric carpotarsal osteolysis syndrome: identification of relevant biomarkers.Frontiers in immunology · 2025Article
- Multicentric carpotarsal osteolysis syndrome with variants of MAFB gene: a case report and literature review.Pediatric rheumatology online journal · 2024Review
- Monogenic Causes Identified in 23.68% of Children with Steroid-Resistant Nephrotic Syndrome: A Single-Centre Study.Kidney diseases (Basel, Switzerland) · 2024Article
- MAFB shapes human monocyte-derived macrophage response to SARS-CoV-2 and controls severe COVID-19 biomarker expression.JCI insight · 2023Article
- Treatment of a young child with multicentric carpotarsal osteolysis exhibiting joint inflammation and dysfunctional bone formation.Bone reports · 2023Article
- Exploring Large MAF Transcription Factors: Functions, Pathology, and Mouse Models with Point Mutations.Genes · 2023Review
- Article
- Modeling human skeletal development using human pluripotent stem cells.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Denosumab Treatment Does Not Halt Progression of Bone Lesions in Multicentric Carpotarsal Osteolysis Syndrome.JBMR plus · 2023Article
- Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2023Article
- Inhibition of LXR controls the polarization of human inflammatory macrophages through upregulation of MAFB.Cellular and molecular life sciences : CMLS · 2023Article
- The Tomographic Study and the Phenotype of Wormian Bones.Diagnostics (Basel, Switzerland) · 2023Article
- Multicentric Carpotarsal Osteolysis: a Contemporary Perspective on the Unique Skeletal Phenotype.Current osteoporosis reports · 2023Review
- Podocyte-specific Transcription Factors: Could MafB Become a Therapeutic Target for Kidney Disease?Internal medicine (Tokyo, Japan) · 2023Review
- Multicentric Carpo-Tarsal Osteolysis.Journal of the Belgian Society of Radiology · 2023Article
- Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants ofJournal of clinical medicine · 2022Article
- Monogenic disorders as mimics of juvenile idiopathic arthritis.Pediatric rheumatology online journal · 2022Article
Corrections and comments
- Erratum issued
Authors and funding
18 authors at 12 institutions in 9 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Multicentric carpotarsal osteolysis (MCTO) is a rare skeletal dysplasia characterized by aggressive osteolysis, particularly affecting the carpal and tarsal bones, and is frequently associated with progressive renal failure. Using exome capture and next-generation sequencing in five unrelated simplex cases of MCTO, we identified previously unreported missense mutations clustering within a 51 base pair region of the single exon of MAFB, validated by Sanger sequencing. A further six unrelated simplex cases with MCTO were also heterozygous for previously unreported mutations within this same region, as were affected members of two families with autosomal-dominant MCTO. MAFB encodes a transcription factor that negatively regulates RANKL-induced osteoclastogenesis and is essential for normal renal development. Identification of this gene paves the way for development of novel therapeutic approaches for this crippling disease and provides insight into normal bone and kidney development.
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