Journal article

PAX6 mutations may be associated with high myopia

Alex W Hewitt, Lisa S Kearns, Robyn V Jamieson, Kathy A Williamson, Veronica van Heyningen, David A Mackey

OPHTHALMIC GENETICS | TAYLOR & FRANCIS INC | Published : 2007

Abstract

PAX6 is a key regulator of eye development and there are many well recognized ophthalmic sequelae of mutations at this locus. The 14 exon PAX6 gene is well conserved across species and phyla. Coding region mutations manifest in a variety of phenotypes. Predicted premature protein truncations are generally associated with classical aniridia. Missense mutations are often found in cases with variant phenotypes such as ectopia pupillae; isolated foveal hypoplasia; nystagmus and hyaloid vessel proliferation. The locus has also been implicated, through a genome-wide sib-pair scan, to be important in the normal variation of myopia. We investigated the association between identified PAX6 mutations a..

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