Journal of Genetic Syndromes & Gene Therapy

Journal of Genetic Syndromes & Gene Therapy
Open Access

ISSN: ISSN: 2157-7412


Steve D Wilton

Steve D Wilton
Centre for Comparative Genomics, Murdoch University,
90 South Street, Murdoch
South Korea

  • Research Article
    A Review of the Type-1 Fibrillinopathies: Pathophysiology, Diagnosis and Novel Therapeutic Strategies
    Author(s): Jessica M Cale, Sue Fletcher and Steve D WiltonJessica M Cale, Sue Fletcher and Steve D Wilton

    Type-1 fibrillinopathies are a family of connective tissue disorders with major clinical manifestations in the skeletal, ocular and cardiovascular systems. The type-1 fibrillinopathies are caused by mutations in the fibrillin-1 gene (FBN1), which encodes fibrillin-1, a large glycoprotein and a major component of the extracellular matrix microfibrils, providing both structural and regulatory support to connective tissues. The type-1 fibrillinopathies have been associated with over 1800 unique mutations within the FBN1 and demonstrate a wide range of phenotypic variability. This, in conjunction with a number of other factors has impacted on the identification of genotypephenotype correlations, pathogenesis and diagnostic tests for this family of diseases, leaving many open-ended theories. Current standard of care relies heavily on surgical intervention and lifelong use of β-blocker.. Read More»

    Abstract PDF

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