Article
Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.
Molecular vision - 2 Apr 2007
Dansault Anouk, David Gabriel, Schwartz Claire, Jaliffa Carolina, Vieira Véronique, de la Houssaye Guillaume, Bigot Karine, Catin Françise, Tattu Laurent, Chopin Catherine, Halimi Philippe, Roche Olivier, Van Regemorter Nicole, Munier Francis, Schorderet Daniel, Dufier Jean-Louis, Marsac Cécile, Ricquier Daniel, Menasche Maurice, Penfornis Alfred, Abitbol Marc
Abstract excerpt
PURPOSE: The PAX6 gene was first described as a candidate for human aniridia. However, PAX6 expression is not restricted to the eye and it appears to be crucial for brain development. We studied PAX6 mutations in a large spectrum of patients who presented with aniridia phenotypes, Peters' anomaly, and anterior segment malformations associated or not with neurological anomalies. METHODS: Patients and related...
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