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Susanne Roosing, Alberta A. Thiadens, Renate C. Zekveld-Vroon, Carel B. Hoyng, Anneke I. den Hollander, Frans P. Cremers, Caroline C. Klaver; Is There Evidence For A Digenic Model In Stargardt Disease?. Invest. Ophthalmol. Vis. Sci. 2011;52(14):5395.
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Stargardt disease (STGD) is an autosomal recessive macular dystrophy caused by mutations in the ABCA4 gene. Screening of this gene in patients with a Stargardt phenotype often reveals only one mutation. We hypothesized that a second gene may play a role in the disease pathogenesis through a digenic mechanism, and considered the possible involvement of CNGB3, a gene causing achromatopsia.
Patients (n=113) with a clinical diagnosis of Stargardt with at least one causative allele in ABCA4 as well asethnically matched controls (n=462) were screened for the c.1148delC common founder mutation in CNGB3 by sequence analysis.
Seven (3.2%) c.1148delC alleles were present in patients versus 9 (1.9%, P= 0.02) in controls, all in heterozygous state.
The c.1148delC mutation in CNGB3 is relatively common in the Dutch population. STGD patients appear to carry this mutation more frequently than controls. Thus a digenic disease model may apply to STGD disease, and CNGB3 screening could have an additive value for STGD patients with a heterozygous ABCA4 mutation.
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