An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
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منابع مشابه
Multicentric Carpotarsal Osteolysis Mimicking Juvenile Idiopathic Arthritis
Background Multicentric carpotarsal osteolysis (MCTO), a skeletal dysplasia presents in early childhood mimicking juvenile idiopathic arthritis (JIA). Recognition of this syndrome is essential to avoid unnecessary treatment with immunosuppressive agents because of different course and treatment. Case Report A 3-year-old boy presented with swelling and restriction of right wrist joint and left ...
متن کاملRemarkable improvement of articular pain by biologics in a Multicentric carpotarsal osteolysis patient with a mutation of MAFB gene.
Introduction Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare autosomal dominant disorder, characterized by aggressive osteolysis of the carpal and tarsal bone, and progressive nephropathy leading to end-stage renal disease. Recently, heterozygous mutations in MAFB gene within a short region of the amino-terminal transcriptional activation domain had been reported to cause MCTO. Al...
متن کاملMulticentric carpotarsal osteolysis syndrome (MCTO) is a rare autosomal dominant skeletal dysplasia usually presenting in early childhood with variable phenotypic features and course. Clinical manifestations comprise aggressive osteolysis of the carpal and tarsal bones
Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare autosomal dominant skeletal dysplasia usually presenting in early childhood with variable phenotypic features and course. Clinical manifestations comprise aggressive osteolysis of the carpal and tarsal bones in particular, an often progressive nephropathy leading to end-stage renal disease, craniofacial anomalies and mental impairmen...
متن کاملWiskott-Aldrich syndrome: report of an autosomal dominant variant.
The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder originally described as a clinical triad of thrombocytopenia with small platelets, eczema, and immunodeficiency. Impaired CD43 glycoprotein expression on lymphocytes is a typical hallmark of this disorder. The CD43 gene is located on chromosome 16, and the WAS gene, WASP, was recently isolated from the chromosome X p11.22-p11....
متن کاملTrio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome: First Case Report in the Balkans
Citation: Stajkovska A, Mehandziska S, Stavrevska M, Jakovleva K, Nikchevska N, Mitrev Z, Kungulovski I, Zafiroski G, Tasic V and Kungulovski G (2018) Trio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome: First Case Report in the Balkans. Front. Genet. 9:113. doi: 10.3389/fgene.2018.00113 Trio Clinical Exome Sequencing in a Patient With Multicentric Carp...
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ژورنال
عنوان ژورنال: International Journal of Molecular Medicine
سال: 2013
ISSN: 1107-3756,1791-244X
DOI: 10.3892/ijmm.2013.1373