title: A single-base substitution in the seed region of miR-184 causes EDICT syndrome.
abstract: OBJECTIVE
  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.
authors: Center for Corneal Genetics, The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors: Benjamin W
authors: BW
authors: Iliff
authors: S Amer
authors: SA
authors: Riazuddin
authors: John D
authors: JD
authors: Gottsch
mesh_terms: D002386:Cataract / Q000151:congenital*; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D003319:Corneal Stroma / Q000473:pathology; D004728:Endothelium, Corneal / Q000473:pathology; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D005786:Gene Expression Regulation / Q000235:genetics; D015723:Gene Library; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D008297:Male; D035683:MicroRNAs / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D013577:Syndrome
chemical_list: C534424:MIRN184 microRNA, human; D035683:MicroRNAs