Article
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2020
Williamson Kathleen A, Hall H Nikki, Owen Liusaidh J, Livesey Benjamin J, Hanson Isabel M, Adams G G W, Bodek Simon, Calvas Patrick, Castle Bruce, Clarke Michael, Deng Alexander T, Edery Patrick, Fisher Richard, Gillessen-Kaesbach Gabriele, Heon Elise, Hurst Jane, Josifova Dragana, Lorenz Birgit, McKee Shane, Meire Francoise, Moore Anthony T, Parker Michael, Reiff Charlotte M, Self Jay, Tobias Edward S, Verheij Joke B G M, Willems Marjolaine, Williams Denise, van Heyningen Veronica, Marsh Joseph A, FitzPatrick David R
Abstract excerpt
PURPOSE: Most classical aniridia is caused by PAX6 haploinsufficiency. PAX6 missense variants can be hypomorphic or mimic haploinsufficiency. We hypothesized that missense variants also cause previously undescribed disease by altering the affinity and/or specificity of PAX6 genomic interactions. METHODS: We screened PAX6 in 372 individuals with bilateral microphthalmia, anophthalmia, or coloboma (MAC) from the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.