Article
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.
Journal of medical genetics - 21 Feb 2024
Hall Hildegard Nikki, Parry David, Halachev Mihail, Williamson Kathleen A, Donnelly Kevin, Campos Parada Jose, Bhatia Shipra, Joseph Jeffrey, Holden Simon, Prescott Trine E, Bitoun Pierre, Kirk Edwin P, Newbury-Ecob Ruth, Lachlan Katherine, Bernar Juan, van Heyningen Veronica, FitzPatrick David R, Meynert Alison
Abstract excerpt
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...
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