Genetic screening to improve the diagnosis of familial hypercholesterolemia

Fathimath Faiz, L.T.H. Nguyễn, Frank Van Bockxmeer, Amanda Hooper

    Research output: Contribution to journalReview article

    1 Citation (Scopus)

    Abstract

    © 2014 Future Medicine Ltd. Familial hypercholesterolemia (FH) is a common inherited disorder that causes premature atherosclerosis due to defective clearance of LDL. With current mutation screening strategies, the success rate of finding a causative LDLR or other mutation in a clinically diagnosed FH patient is approximately 70-80%. High-throughput next-generation sequencing approaches are now being introduced to not only identify mutations in genes not previously suspected to be important to FH, but also to screen the currently known gene variants more comprehensively with greater success. Where conventional methods have failed to disclose a causative mutation in one of the known genes, a polygenic mode of inheritance has been proposed to account for FH in these 'mutation-negative' patients. Identifying the precise molecular basis of the disorder is important for family cascade screening as well as to optimize treatment and clinical management, thereby preventing the otherwise fatal consequences of undiagnosed and untreated FH.
    Original languageEnglish
    Pages (from-to)523-532
    JournalClinical Lipidology
    Volume9
    Issue number5
    DOIs
    Publication statusPublished - 2014

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    Hyperlipoproteinemia Type II
    Genetic Testing
    Mutation
    Multifactorial Inheritance
    Genes
    Atherosclerosis
    Medicine

    Cite this

    Faiz, Fathimath ; Nguyễn, L.T.H. ; Van Bockxmeer, Frank ; Hooper, Amanda. / Genetic screening to improve the diagnosis of familial hypercholesterolemia. In: Clinical Lipidology. 2014 ; Vol. 9, No. 5. pp. 523-532.
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    author = "Fathimath Faiz and L.T.H. Nguyễn and {Van Bockxmeer}, Frank and Amanda Hooper",
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    Genetic screening to improve the diagnosis of familial hypercholesterolemia. / Faiz, Fathimath; Nguyễn, L.T.H.; Van Bockxmeer, Frank; Hooper, Amanda.

    In: Clinical Lipidology, Vol. 9, No. 5, 2014, p. 523-532.

    Research output: Contribution to journalReview article

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    AB - © 2014 Future Medicine Ltd. Familial hypercholesterolemia (FH) is a common inherited disorder that causes premature atherosclerosis due to defective clearance of LDL. With current mutation screening strategies, the success rate of finding a causative LDLR or other mutation in a clinically diagnosed FH patient is approximately 70-80%. High-throughput next-generation sequencing approaches are now being introduced to not only identify mutations in genes not previously suspected to be important to FH, but also to screen the currently known gene variants more comprehensively with greater success. Where conventional methods have failed to disclose a causative mutation in one of the known genes, a polygenic mode of inheritance has been proposed to account for FH in these 'mutation-negative' patients. Identifying the precise molecular basis of the disorder is important for family cascade screening as well as to optimize treatment and clinical management, thereby preventing the otherwise fatal consequences of undiagnosed and untreated FH.

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