[From gene to disease: from the ABCA4 gene to Stargardt disease, cone-rod dystrophy and retinitis pigmentosa]
Publication year
2002Source
Nederlands Tijdschrift voor Geneeskunde, 146, 34, (2002), pp. 1581-1584ISSN
Publication type
Article / Letter to editor

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Organization
Human Genetics
Ophthalmology
Journal title
Nederlands Tijdschrift voor Geneeskunde
Volume
vol. 146
Issue
iss. 34
Page start
p. 1581
Page end
p. 1584
Subject
Hereditary and acquired vitreo-retinal disorders: experimental and clinical research and treatment.; Elucidation of hereditary disorders and their molecular diagnosis; Erfelijke en verworven vitreo-retinale aandoeningen: experimenteel en klinisch onderzoek en behandeling.; Opheldering van erfelijke ziekten en hun moleculaire diagnostiekAbstract
Autosomal recessive Stargardt disease is caused by mutations in the ABCA4 gene. Mutations in ABCA4 are also found in two-thirds of cases with autosomal recessive cone-rod dystrophy, and a small fraction of patients with autosomal recessive retinitis pigmentosa. Patients with autosomal recessive retinitis pigmentosa, the most severe of these three phenotypes, invariably carry ABCA4 inactivating mutations; patients with autosomal recessive cone-rod dystrophy and Stargardt disease carry combinations of mutations that do not completely inactivate the retina specific 'ATP-binding cassette transporter' (ABCR) protein. DNA diagnostics is complicated by the high allelic heterogeneity and the uncertainty as to whether some ABCA4 variants are pathological. Nevertheless, ABCA4 mutation analysis is particularly important for patients with cone-rod dystrophy to confirm the autosomal recessive mode of inheritance.
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- Faculty of Medical Sciences [80017]
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