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Abstract #75513 Published in IGR 19-2
Novel mutation reported in an aniridia patient
Winegarner A; Oie Y; Kawasaki S; Nishida N; Nishida KHuman genome variation 2017; 4: 17053
An aniridia patient was found to have a novel mutation. A genetic duplication within , which caused a frameshift mutation, ultimately created a nonsense stop codon and premature truncation of the protein. Consequently, the patient presented with a clouded cornea as a result of partial limbal stem cell deficiency, foveal hypoplasia, nystagmus and a pale, cupped optic disc caused by glaucoma.
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Classification:
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)
