Ontology highlight
ABSTRACT:
SUBMITTER: Slavotinek AM
PROVIDER: S-EPMC3401628 | biostudies-literature | 2012 Feb
REPOSITORIES: biostudies-literature
Slavotinek Anne M AM Chao Ryan R Vacik Tomas T Yahyavi Mani M Abouzeid Hana H Bardakjian Tanya T Schneider Adele A Shaw Gary G Sherr Elliott H EH Lemke Greg G Youssef Mohammed M Schorderet Daniel F DF
Human mutation 20111227 2
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, cleft lip/palate, and corpus callosum agenesis. This mutation affects an invariant r ...[more]