VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.
Hum Mutat
; 33(2): 364-8, 2012 Feb.
Article
en En
| MEDLINE
| ID: mdl-22095910
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.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Fenotipo
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Factores de Transcripción
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Microftalmía
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Labio Leporino
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Fisura del Paladar
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Proteínas de Homeodominio
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Agenesia del Cuerpo Calloso
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Mutación
Tipo de estudio:
Prognostic_studies
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Risk_factors_studies
Límite:
Child, preschool
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Humans
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Male
Idioma:
En
Revista:
Hum Mutat
Asunto de la revista:
GENETICA MEDICA
Año:
2012
Tipo del documento:
Article
País de afiliación:
Estados Unidos