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Related Experiment Videos

Ichthyosis and neutral lipid storage disease.

M L Williams, T K Koch, J J O'Donnell

    American Journal of Medical Genetics
    |April 1, 1985
    PubMed
    Summary

    This study identifies a rare lipid storage disease in a Middle Eastern family, presenting with ichthyosis, deafness, and cataracts. Heterozygotes for this autosomal recessive disorder can be identified by vacuoles in eosinophils.

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    Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH.

    Clinical genetics·2007

    Area of Science:

    • Biochemistry
    • Genetics
    • Dermatology

    Background:

    • Lipid storage diseases are a group of metabolic disorders.
    • Congenital ichthyosiform erythroderma, neurosensory deafness, cataracts, myopathy, and leukocyte vacuoles characterize a unique disorder.

    Observation:

    • Four members of a consanguineous Middle Eastern family presented with a complex set of symptoms.
    • Clinical and biochemical manifestations were consistent with a lipid metabolism disorder.

    Findings:

    • The disorder is inherited as an autosomal recessive trait.
    • Vacuoles in circulating eosinophils serve as a marker for heterozygotes.

    Implications:

    • This research clarifies a rare genetic lipid storage disease.

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  • Identifying heterozygotes through eosinophil vacuoles aids in genetic counseling and understanding disease transmission.