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Broad Phenotypic variability in a Single Pedigree With a Novel 1410delC Mutation in the PST Domain of the PAX6 Gene
journal contributionposted on 2023-05-16, 13:39 authored by Sale, MM, Jamie CraigJamie Craig, Jac CharlesworthJac Charlesworth, Liesel FitzgeraldLiesel Fitzgerald, Hanson, I, Joanne DickinsonJoanne Dickinson, Matthews, S, van Heyningen, V, Fingert, J, David MackeyDavid Mackey
The PAX6 mutation present in an individual with aniridia was determined and phenotypic features of immediate relatives carrying the same mutation investigated. Mutation analysis revealed a novel single base deletion 1410delC in the PAX6 gene in ten affected individuals. Clinical features ranged from total aniridia to very mild anterior segment findings. Other findings included partial aniridia, iris stromal hypoplasia, keratitis, cataract, glaucoma, optic disc anomalies and foveal hypoplasia. It appears that independent modifying factors may underlie the variability of the different phenotypic features of the PAX6 mutation. Copyright 2002 Wiley-Liss, Inc.
Publication titleHuman Mutation
Department/SchoolMenzies Institute for Medical Research
PublisherWiley-Liss, Div John Wiley & Sons Inc
Place of publicationNew York, USA