Article
Heterozygous mutations of OTX2 cause severe ocular malformations.
American journal of human genetics - 1 Jun 2005
Ragge Nicola K, Brown Alison G, Poloschek Charlotte M, Lorenz Birgit, Henderson R Alex, Clarke Michael P, Russell-Eggitt Isabelle, Fielder Alistair, Gerrelli Dianne, Martinez-Barbera Juan Pedro, Ruddle Piers, Hurst Jane, Collin J Richard O, Salt Alison, Cooper Simon T, Thompson Pamela J, Sisodiya Sanjay M, Williamson Kathleen A, Fitzpatrick David R, van Heyningen Veronica, Hanson Isabel M
Abstract excerpt
Major malformations of the human eye, including microphthalmia and anophthalmia, are examples of phenotypes that recur in families yet often show no clear Mendelian inheritance pattern. Defining loci by mapping is therefore rarely feasible. Using a candidate-gene approach, we have identified heterozygous coding-region changes in the homeobox gene OTX2 in eight families with ocular malformations. The expression...
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