A Homozygous Splice Mutation in the<i>HSF4</i>Gene Is Associated with an Autosomal Recessive Congenital Cataract

Abstract

This is the first report describing association of an autosomal recessive cataract with the HSF4 locus on 16q21-q22.1 and the first description of HSF4 splice variants in the lens showing that HSF4b is the major transcript.