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Abstract #77211 Published in IGR 19-3
Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a Novel Mutation
Wang GM; Wang GM; Prasov L; Prasov L; Al-Hasani H; Marrs CER; Tolia S; Wiinikka-Buesser L; Richards JE; Bohnsack BLJournal of Ophthalmology 2018; 2018: 5978293
Aniridia is a congenital disease that affects almost all eye structures and is primarily caused by loss-of-function mutations in the gene. The degree of vision loss in aniridia varies and is dependent on the extent of foveal, iris, and optic nerve hypoplasia and the presence of glaucoma, cataracts, and corneal opacification. Here, we describe a 4-generation family in which 7 individuals across 2 generations carry a novel disease-causing frameshift mutation (NM_000280.4(PAX6):c.565TC>T) in This mutation results in an early stop codon in exon 8, which is predicted to cause nonsense-mediated decay of the truncated mRNA and a functionally null allele. Family members with aniridia showed differences in multiple eye phenotypes including iris and optic nerve hypoplasia, congenital and acquired corneal opacification, glaucoma, and strabismus. Visual acuity ranged from 20/100 to less than 20/800. Patients who required surgical intervention for glaucoma or corneal opacification had worse visual outcomes. Our results show that family members carrying a novel frameshift mutation have variable expressivity, leading to different ocular comorbidities and visual outcomes.
Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, The University of Michigan, Ann Arbor, MI 48105, USA.
Full articleClassification:
9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
