Hildegard Nikki Hall, David Parry, Mihail Halachev, Kathleen A Williamson, Kevin Donnelly, Jose Campos Parada, Shipra Bhatia, Jeffrey Joseph, Simon Holden, Trine E Prescott, Pierre Bitoun, Edwin P Kirk, Ruth Newbury-Ecob, Katherine Lachlan, Juan Bernar, Veronica van Heyningen, David R FitzPatrick, Alison Meynert
BACKGROUND: Classic aniridia is a highly penetrant autosomal dominant disorder characterised by congenital absence of the iris, foveal hypoplasia, optic disc anomalies and progressive opacification of the cornea. >90% of cases of classic aniridia are caused by heterozygous, loss-of-function variants affecting the PAX6 locus. METHODS: Short-read whole genome sequencing was performed on 51 (39 affected) individuals from 37 different families who had screened negative for mutations in the PAX6 coding region...
November 30, 2023: Journal of Medical Genetics