C.57 C > T Mutation in MIR 184 is Responsible for Congenital Cataracts and Corneal Abnormalities in a Five-generation Family from Galicia, Spain

Abstract

A c.57 C > T mutation in the seed region of MIR184 located at the 15q25.1 chromosomal region has been independently associated with autosomal dominant keratoconus with early-onset anterior polar cataract in the Northern Irish family and with autosomal dominant EDICT (Endothelial Dystrophy, Iris hypoplasia, Congenital cataracts, and stromal Thinning) syndrome. In this study we report a five-generation family originating in Galicia, Spain with early onset cataracts and variable corneal abnormalities which include non-ectatic corneal thinning and severe early-onset keratoconus. We identified a heterozygous c.57 C > T mutation in miR-184 in the proband and two additional affected relatives on the maternal side. This finding represents a third independent occurrence of this mutation in familiar ocular disease thus strengthening the link between miR-184 abnormalities and inherited eye defects.

• Keratoconus
• micro RNA
• mutation

ACKNOWLEDGEMENTS

We thank all the family members for participation in our study.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.

This work was supported by the National Eye Institute [Grant no. NEI 09052], the Skirball Foundation for Molecular Ophthalmology, and the Eye Defects Research Foundation Inc.