ArticleHuman mutation2012
VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.
Article in Human mutation, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 71 citations in OpenAlex.
- Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only.Human molecular genetics · 2017Pooled it
- Biological pathways leading to septo-optic dysplasia: a review.Orphanet journal of rare diseases · 2025Review
- Bankable human iPSC-derived retinal progenitors represent a valuable source of multipotent cells.Communications biology · 2023Article
- Visuomotor anomalies in achiasmatic mice expressing a transfer-defective Vax1 mutant.Experimental & molecular medicine · 2023Article
- Optic cup morphogenesis across species and related inborn human eye defects.Development (Cambridge, England) · 2023Review
- Cell fate decisions, transcription factors and signaling during early retinal development.Progress in retinal and eye research · 2022Review
- Mouse Cre drivers: tools for studying disorders of the human female neuroendocrine-reproductive axis†.Biology of reproduction · 2022Review
- Birth Defect Co-Occurrence Patterns Among Infants With Cleft Lip and/or Palate.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2022Article
- Kiss1 is differentially regulated in male and female mice by the homeodomain transcription factor VAX1.Molecular and cellular endocrinology · 2021Article
- Machine learning in prediction of genetic risk of nonsyndromic oral clefts in the Brazilian population.Clinical oral investigations · 2021Article
- Discovering candidate imprinted genes and imprinting control regions in the human genome.BMC genomics · 2020Article
- Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.Experimental eye research · 2020Review
- Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes.International journal of molecular sciences · 2020Review
- The Use of Induced Pluripotent Stem Cells as a Model for Developmental Eye Disorders.Frontiers in cellular neuroscience · 2020Article
- The hedgehog pathway and ocular developmental anomalies.Human genetics · 2019Review
- Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.Human genetics · 2019Review
- The Molecular Basis of Human Anophthalmia and Microphthalmia.Journal of developmental biology · 2019Review
- Global Analysis of Intercellular Homeodomain Protein Transfer.Cell reports · 2019Article
- Analyzing DNA methylation patterns in subjects diagnosed with schizophrenia using machine learning methods.Journal of psychiatric research · 2019Article
- Haploinsufficiency of Homeodomain Proteins Six3, Vax1, and Otx2 Causes Subfertility in Mice via Distinct Mechanisms.Neuroendocrinology · 2019Review
Corrections and comments
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Authors and funding
12 authors at 7 institutions in 3 countries.
Funding
Abstract
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.