Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy.
Hum Genet
; 128(1): 51-60, 2010 Jul.
Article
em En
| MEDLINE
| ID: mdl-20414678
ABSTRACT
Mutations in the visual system homeobox 2 gene (VSX2, also known as CHX10), which encodes a retinal transcription factor from the paired homeobox family, have been implicated in recessive isolated microphthalmia. In this study, we use genome-wide single nucleotide polymorphism homozygosity mapping in unrelated small consanguineous pedigrees and a candidate gene approach to identify three further causative VSX2 mutations (two novel and one previously reported). All affected individuals with homozygous mutations had bilateral anophthalmia or severe microphthalmia with absent vision. In addition, we identified a novel inner retinal dystrophy in two carrier parents suggesting a semidominant effect for this particular VSX2 mutation. A further study of individuals with retinal degenerative conditions may reveal a causative role for heterozygous mutations in VSX2.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Degeneração Retiniana
/
Fatores de Transcrição
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Microftalmia
/
Proteínas de Homeodomínio
/
Genes Recessivos
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Child
/
Humans
Idioma:
En
Revista:
Hum Genet
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Reino Unido