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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a VAX1 phenotype in humans
Human Mutation, Volume 33, No. 2, Year 2012
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Description
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. © 2011 Wiley Periodicals, Inc.
Authors & Co-Authors
Slavotinek, Anne M.
United States, San Francisco
University of California, San Francisco
Chao, Ryan
United States, San Francisco
University of California, San Francisco
Vacik, Tomas
United States, San Diego
Salk Institute for Biological Studies
Yahyavi, Mani
United States, San Francisco
University of California, San Francisco
Abouzeid, Hana
Switzerland, Lausanne
Jules Gonin Eye Hospital
Bardakjian, Tanya
United States, Philadelphia
Albert Einstein Medical Center
Schneider, Adele S.
United States, Philadelphia
Albert Einstein Medical Center
Shaw, Gary
United States, Stanford
Stanford University School of Medicine
Sherr, Elliott H.
United States, San Francisco
University of California, San Francisco
Lemke, Greg
United States, San Diego
Salk Institute for Biological Studies
Youssef, Mohammed
Egypt, Alexandria
Faculty of Medicine
Schorderet, Daniel F F.
Switzerland, Lausanne
Université de Lausanne Unil
Statistics
Citations: 65
Authors: 12
Affiliations: 7
Identifiers
Doi:
10.1002/humu.21658
ISSN:
10597794
e-ISSN:
10981004
Research Areas
Cancer
Genetics And Genomics
Health System And Policy