Presymptomatic Diagnosis: a First Step Toward Genetic Health Care

Caskey, C. Thomas

doi:10.1126/science.8211129

Cited by 22 publications

(8 citation statements)

References 18 publications

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“…Pre-symptomatic diagnosis is an important step towards a future health care system which, in part, will be based on genetic susceptibility to a particular disease (20). A close monitoring of the proband could improve our understanding of the genotype-phenotype relationship in LCAT deficiency and provide early treatment of the disease.…”

Section: Resultsmentioning

confidence: 99%

Molecular Diagnosis of Lecithin: Cholesterol Acyltransferase Deficiency in a Presymptomatic Proband

Cirera¹,

Julve²,

Ferrer³

et al. 1998

CCLM

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We report the molecular diagnosis of a lecithin : cholesterol acyltransferase deficiency in a 12-year old proband with a high-density lipoprotein deficiency. The increased percentage of free cholesterol in plasma and high-density lipoprotein indicated an inherited lecithin : cholesterol acyltransferase deficiency as the underlying cause. This diagnosis was confirmed by a low plasma lecithin : cholesterol acyltransferase activity and a combination of genetic analyses which demonstrated compound heterozygosity for two mutations in the lecithin : cholesterol acyltransferase gene of the proband. One was a previously unreported 2 bp deletion leading to a stop signal in codon 77 and the other a point mutation causing Arg 135-->Gln transition. To our knowledge, this is the first diagnosis of lecithin : cholesterol acyltransferase deficiency in a pre-symptomatic patient. Whether the proband will develop signs of complete lecithin : cholesterol acyltransferase deficiency or the milder form (Fish Eye Disease) is uncertain, although the former possibility is more likely. The risk of premature atherosclerosis conferred by lecithin : cholesterol acyltransferase deficiency is not well established. The proband will need to be carefully monitored in the future.

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Section: Resultsmentioning

confidence: 99%

Molecular Diagnosis of Lecithin: Cholesterol Acyltransferase Deficiency in a Presymptomatic Proband

Cirera¹,

Julve²,

Ferrer³

et al. 1998

CCLM

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“…[45] The goal of genetic diagnosis is early recognition of a disease so that intervention can be undertaken to prevent or reverse the disease process. This was one of the goals of the Human Genome Project.…”

Section: Basic Molecular Geneticsmentioning

confidence: 99%

Gene therapy in glaucoma-part I: Basic mechanisms and molecular genetics

Mahdy

2010

Oman J Ophthalmol

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Glaucoma is the second most common cause of blindness in the world as determined by the World Health Organization (WHO). Glaucoma diagnosis, identification of people at risk, initiation of treatment and timing of surgical intervention remains a problem. Despite new and improving diagnostic and therapeutic options for glaucoma, blindness from glaucoma remains a major public health problem. The role of heredity in ocular disease is attracting greater attention as knowledge and recent advances of Human Genome Project and the HapMap Project have made genetic analysis of many human disorders possible.Glaucoma offers a variety of potential targets for gene therapy. All risk factors for glaucoma and their underlying causes are potentially susceptible to modulation by gene transfer. The discovery of genes responsible for glaucoma has led to the development of new methods of Deoxyribonucleic acid (DNA)-based diagnosis and treatment. As genetic defects responsible for glaucoma are identified and the biochemical mechanisms underlying the disease are recognized, new methods of therapy can be developed. It is of utmost importance for ophthalmologists and glaucoma specialists to be familiar with and understand the basic molecular mechanisms, genes responsible for glaucoma and the ways of genetic treatment.Method of Literature SearchThe literature was searched on the Medline database using the Pubmed interface.

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“…This nonbiased molecular diagnostic approach of PCR-coupled DNA sequencing is applicable in presymptomatic disease screening (Caskey, 1993), especially for diseases which can be treated early in life. Currently, neonatal blood can be collected on a filter paper matrix (Guthrie and Susi, 1963) and analyzed with respect to several diseases.…”

Section: Future Directions: Multiplex Amplifications Andmentioning

confidence: 99%