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Benjamin W. Iliff, S. Amer Riazuddin, John D. Gottsch; A Single-base Substitution in the Seed Region of miR-184 Causes EDICT Syndrome. Invest. Ophthalmol. Vis. Sci. 2012;53(14):4222.
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To investigate the cause of the syndrome characterized by endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (EDICT).
Previously we reported a multigenerational family with 10 individuals affected by syndromal anterior segment dysgenesis. Blood samples were re-collected from 8 affected and 2 unaffected individuals and genomic DNA was extracted. A total of 24 candidate genes and 4 microRNA residing within the critical interval were sequenced bi-directionally. In silico analyses were performed to examine the effect of the causal variant on the stability of the pre-microRNAstructure.
Bi-directional sequencing identified a single-base substitution +57C>T in miR-184. This variation segregated with the disease phenotype and was absent in the 1000 Genomes project, 1130 control chromosomes, and 28 non-human vertebrates.
The single-base pair substitution +57C>T in the seed region of miR-184 is responsible for the disease phenotype observed in EDICT syndrome.
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