Article
Mutation of SALL2 causes recessive ocular coloboma in humans and mice.
Human molecular genetics - 15 May 2014
Kelberman Daniel, Islam Lily, Lakowski Jörn, Bacchelli Chiara, Chanudet Estelle, Lescai Francesco, Patel Aara, Stupka Elia, Buck Anja, Wolf Stephan, Beales Philip L, Jacques Thomas S, Bitner-Glindzicz Maria, Liasis Alki, Lehmann Ordan J, Kohlhase Jürgen, Nischal Ken K, Sowden Jane C
Abstract excerpt
Ocular coloboma is a congenital defect resulting from failure of normal closure of the optic fissure during embryonic eye development. This birth defect causes childhood blindness worldwide, yet the genetic etiology is poorly understood. Here, we identified a novel homozygous mutation in the SALL2 gene in members of a consanguineous family affected with non-syndromic ocular coloboma variably affecting the iris...
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