Ontology highlight
ABSTRACT:
SUBMITTER: Lechner J
PROVIDER: S-EPMC4168824 | biostudies-literature | 2014 Oct
REPOSITORIES: biostudies-literature
Lechner Judith J Porter Louise F LF Rice Aine A Vitart Veronique V Armstrong David J DJ Schorderet Daniel F DF Munier Francis L FL Wright Alan F AF Inglehearn Chris F CF Black Graeme C GC Simpson David A DA Manson Forbes F Willoughby Colin E CE
Human molecular genetics 20140603 20
Keratoconus, a common inherited ocular disorder resulting in progressive corneal thinning, is the leading indication for corneal transplantation in the developed world. Genome-wide association studies have identified common SNPs 100 kb upstream of ZNF469 strongly associated with corneal thickness. Homozygous mutations in ZNF469 and PR domain-containing protein 5 (PRDM5) genes result in brittle cornea syndrome (BCS) Types 1 and 2, respectively. BCS is an autosomal recessive generalized connective ...[more]