Ontology highlight
ABSTRACT:
SUBMITTER: Ragge NK
PROVIDER: S-EPMC1196439 | biostudies-literature | 2005 Jun
REPOSITORIES: biostudies-literature
Ragge Nicola K NK Brown Alison G AG Poloschek Charlotte M CM Lorenz Birgit B Henderson R Alex RA Clarke Michael P MP Russell-Eggitt Isabelle I Fielder Alistair A Gerrelli Dianne D Martinez-Barbera Juan Pedro JP Ruddle Piers P Hurst Jane J Collin J Richard O JR Salt Alison A Cooper Simon T ST Thompson Pamela J PJ Sisodiya Sanjay M SM Williamson Kathleen A KA Fitzpatrick David R DR van Heyningen Veronica V Hanson Isabel M IM
American journal of human genetics 20050421 6
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 pattern of OTX2 in human embryos is consistent with the eye phenotypes observed in the ...[more]