An Incompletely Penetrant Novel MAFB (p.Ser56Phe) Variant in Autosomal Dominant Multicentric Carpotarsal Osteolysis Syndrome
May 2013
in “
International Journal of Molecular Medicine
”
TLDR Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
In the 2013 study, researchers discovered a novel MAFB gene variant (p.Ser56Phe) in a 17-year-old German patient with multicentric carpotarsal osteolysis syndrome (MCTO), a condition that was initially mistaken for juvenile rheumatoid arthritis. This variant was also present in three asymptomatic female relatives, indicating incomplete penetrance and suggesting that other genetic, epigenetic, or environmental factors may affect the disease's expression. The study concluded that the p.Ser56Phe variant is likely pathogenic due to its unique presence, evolutionary conservation, and location in a critical domain of MafB. The findings emphasize the complexity of genetic penetrance and the need for further research to understand the factors influencing the manifestation of genetic disorders like MCTO.
