Marfan Ailment
DOI:
https://doi.org/10.59675/U225Keywords:
Marfan Syndrome, Connective Tissue Disorder, Fibrillin-1 Gene (FBN1), Genetic Mutation, Autosomal Dominant InheritanceAbstract
Marfan syndrome is a connective tissue abnormality that leads to various system diseases, such as enlargement of the long bones and problems with the skin, heart, and eyes [1]. The condition is either caused by a novel mutation or an inherited mutation of the fibrillin-1 gene (FBN1). Both mutations are phenotypically identical [2]. The heritable variant is inherited by an autosomal dominant pattern, which means that the disease can be caused by a single copy of the defective gene [3,4]. People who don't have a positive family history of the condition can nonetheless get the disease from de novo mutations. 25% of Marfan syndrome cases are believed to be caused by a novel mutation in the FBN1 gene, although these cases are less common than those with inherited mutations [5,6]. The prevalence of Marfan syndrome varies from 1 in 5000 to 1 in 10,000; there is no discernible racial, ethnic, or gender preference [7].
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