Multicentric carpotarsal osteolysis (MCTO) is an autosomal dominant condition characterized by carpal-tarsal abnormalities; over half of affected individuals also develop renal disease. MCTO is caused by mutations of MAFB; however, there is no clear phenotype-genotype correlation. We describe the first reported family of variable MCTO phenotype due to mosaicism: the proband had classical skeletal features and renal involvement due to focal segmental glomerulosclerosis (FSGS), and the father had profound renal impairment due to FSGS, necessitating kidney transplantation. Mosaicism was first suspected in this family due to unequal allele ratios in the sequencing chromatograph of the initial blood sample of proband's father and confirmed by sequencing DNA extracted from the father's hair, collected from different bodily parts. This case highlights the need for a high index of clinical suspicion to detect low-level parental mosaicism, as well as a potential role for MAFB mutation screening in individuals with isolated FSGS.
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Ophthalmologic Symptoms in a Patient With Autosomal Dominant Multicentric Carpotarsal Osteolysis.
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November 2024
Department of Ophthalmology, UZ Leuven, Leuven, Belgium; and.
Purpose: The purpose of this case report was to provide a detailed description of the ocular manifestations, in a patient with multicentric carpotarsal osteolysis (MCTO), with particular emphasis on bilateral corneal opacities.
Methods: A 43-year-old woman with a history of MCTO was followed with visual acuity assessment and slit-lamp examination at the Department of Ophthalmology in the University Hospitals of Leuven.
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A case report of multicentric carpotarsal osteolysis syndrome: Depiction of a debilitating disease course.
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Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare skeletal disorder characterized by progressive osteolysis involving the carpal and tarsal bones, and often associated with nephropathy. It is caused by heterozygous mutation in the MAF bZIP transcription factor B (MAFB) gene. Heterogeneous clinical manifestation and wide spectrum of disease severity have been observed in patients with MCTO.
View Article and Find Full Text PDFMulticentric carpotarsal osteolysis syndrome with variants of MAFB gene: a case report and literature review.
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Department of Pediatric Allergy, Immunology & Rheumonoly, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510623, China.
Article Synopsis
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- Identification of MAFB mutations is a key advancement in understanding MCTO's causes.
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Background: Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) is an autosomal dominant disease with increased bone reabsorption in the carpus and tarsus and the elbows, knees and spine. The disease is extremely heterogeneous and secondary and tertiary injuries vary widely and can lead to progressive disability and severe functional limitations. In addition to the available and upcoming drug therapies, physical medicine and rehabilitation are important treatment options.
View Article and Find Full Text PDFA report of 5 Indian families with multicentric carpotarsal osteolysis syndrome.
Eur J Med Genet
September 2023
Division of Genetics, Department of Pediatrics, AIIMS, New Delhi, India. Electronic address:
Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare autosomal dominant skeletal dysplasia characterised by swelling and restriction of movement in the wrist and ankle joints, as well as osteolysis of the carpal and tarsal bones, that can be misdiagnosed as juvenile idiopathic arthritis. We describe five Indian families with heterozygous nonrecurrent missense pathogenic variants in exon 1 of MAF bZIP transcription factor B (MAFB).
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