2. Academic Validation
  3. A single-base substitution in the seed region of miR-184 causes EDICT syndrome

A single-base substitution in the seed region of miR-184 causes EDICT syndrome

  • Invest Ophthalmol Vis Sci. 2012 Jan 25;53(1):348-53. doi: 10.1167/iovs.11-8783.
Benjamin W Iliff 1,  S Amer Riazuddin,  John D Gottsch
Affiliations

Affiliation

  • 1 Center for Corneal Genetics, The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
PMID: 22131394 DOI: 10.1167/iovs.11-8783
Abstract

Purpose: To investigate the cause of the syndrome characterized by endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (EDICT).

Methods: Previously a multigenerational family was reported that comprised 10 individuals affected by syndromal anterior segment dysgenesis. Blood samples were re-collected from eight affected and two unaffected individuals, and genomic DNA was extracted. A total of 24 candidate genes and 4 MicroRNAs residing within the critical interval were sequenced bidirectionally. In silico analyses were performed to examine the effect of the causal variant on the stability of the pre-microRNA structure.

Results: Bidirectional sequencing identified the 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 nonhuman vertebrates.

Conclusions: The single-base-pair substitution in the seed region of miR-184 is responsible for the disease phenotype observed in EDICT syndrome.

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