familial keratoconus with cataract
Monday 14 November 2011
MicroRNAs (miRNAs) bind to complementary sequences within the 3’ untranslated region (UTR) of mRNAs from hundreds of target genes, leading either to mRNA degradation or suppression of translation.
A mutation in the seed region of miR-184 (MIR184) is responsible for familial severe keratoconus combined with early-onset anterior polar cataract by deep sequencing of a linkage region known to contain the mutation.
Mutation Altering the miR-184 Seed Region Causes Familial Keratoconus with Cataract. Hughes AE, Bradley DT, Campbell M, Lechner J, Dash DP, Simpson DA, Willoughby CE. Am J Hum Genet. 2011 Oct 11. PMID: 21996275