VAX1mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of aVAX1phenotype in humans
Copyright policy )VAX1mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of aVAX1phenotype in humans
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 residue in the homeodomain of VAX1 and was absent from 96 Egyptian controls. It is likely that the mutation results in a loss of function, as the mutation results in a phenotype similar to the Vax1 homozygous null mouse. We did not identify any mutations in VAX2. This is the first description of a phenotype associated with a VAX1 mutation in humans and establishes VAX1 as a new causative gene for A/M.
- Einstein Medical Center Philadelphia United States
- Stanford University United States
- École Polytechnique Fédérale de Lausanne EPFL Switzerland
- Alexandria University Egypt
- Einstein Healthcare Network United States
Homeodomain Proteins, Male, Cleft Lip, Homozygote, Exons, Cleft Palate, HEK293 Cells, Phenotype, Amino Acid Substitution, Gene Frequency, Child, Preschool, Mutation, Humans, Microphthalmos, Agenesis of Corpus Callosum, Transcription Factors
Homeodomain Proteins, Male, Cleft Lip, Homozygote, Exons, Cleft Palate, HEK293 Cells, Phenotype, Amino Acid Substitution, Gene Frequency, Child, Preschool, Mutation, Humans, Microphthalmos, Agenesis of Corpus Callosum, Transcription Factors
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