Article
VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.
Human mutation - 1 Feb 2012
Slavotinek Anne M, Chao Ryan, Vacik Tomas, Yahyavi Mani, Abouzeid Hana, Bardakjian Tanya, Schneider Adele, Shaw Gary, Sherr Elliott H, Lemke Greg, Youssef Mohammed, Schorderet Daniel F
Abstract excerpt
Vax1 and Vax2 have been implicated in eye development and the closure of the choroid fissure in mice and zebrafish. We sequenced the coding exons of VAX1 and VAX2 in 70 patients with anophthalmia/microphthalmia (A/M). In VAX1, we observed homozygosity for two successive nucleotide substitutions c.453G>A and c.454C>A, predicting p.Arg152Ser, in a proband of Egyptian origin with microphthalmia, small optic nerves,...
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