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Abstract #46783 Published in IGR 13-3
Aniridia phenotype and myopia in a Turkish boy with a PAX6 gene mutation
Caglayan AO; Robinson DGenetic Counselling 2011; 22: 155-159
A boy with bilateral aniridia, iris coloboma, glaucoma, myopia and slight developmental delay was found to have a frame shift mutation in the PAX6 gene. The c.474delC mutation was de novo and both parents had a normal eye phenotype.
A.O. Caglayan. Kayseri Education and Research Hospital, Department of Medical Genetics, 38010, Kayseri, Turkey.
Classification:
9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
8.1 Myopia (Part of: 8 Refractive errors in relation to glaucoma)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
