Multicentric Carpotarsal Osteolysis Syndrome in a Mother and Daughter with a < b > < i > MAFB < /i > < /b > Missense Variant and Natural History of the Disease

This study reports the first Brazilian family diagnosed with MCTO with progressive osteolysis of the carpal and tarsal bones, presenting a c.161C#x3e;T (p.Ser54Leu) heterozygous variant in theMAFB gene, describing the clinical, radiological, and molecular findings, compared with literature data, and discussing the different clinical and molecular diagnosis, as well as the natural history of the disease. Since MCTO is a disorder with progressive symptoms, an early diagnosis is important to avoid unnecessary investigations and treatments and to provide the proper follow-up.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research