A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin.
Mol Vis
; 14: 323-6, 2008 Feb 09.
Article
en En
| MEDLINE
| ID: mdl-18334946
ABSTRACT
PURPOSE:
To identify the underlying genetic defect in a three-generation family with five members affected with dominant bilateral congenital cataract and microcornea.METHODS:
Detailed family history and clinical data were recorded. Mutation screening in the candidate genes, CRYAA, CRYBB1, MAF, GJA3, and GJA8, was performed by bidirectional sequencing of the amplified products.RESULTS:
Affected individuals had a jellyfish-like cataract in association with microcornea. Sequencing of GJA8 (connexin 50) showed a novel, heterozygous c.134G-->C change that resulted in the substitution of a highly conserved tryptophan by serine (p.W45S). This sequence change segregated completely with the disease phenotype and was not observed in 108 ethnically matched controls (216 chromosomes). However, an identical substitution has previously been described in GJA3 (connexin 46) leading to autosomal dominant nuclear cataract without microcornea.CONCLUSIONS:
This is a novel mutation identified in the first transmembrane domain (M1) of GJA8. These findings further expand the mutation spectrum of connexin 50 (Cx50) in association with congenital cataract and microcornea.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Catarata
/
Conexinas
/
Predisposición Genética a la Enfermedad
/
Pueblo Asiatico
/
Proteínas del Ojo
/
Mutación
Tipo de estudio:
Prognostic_studies
/
Risk_factors_studies
Límite:
Child
/
Female
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Mol Vis
Asunto de la revista:
BIOLOGIA MOLECULAR
/
OFTALMOLOGIA
Año:
2008
Tipo del documento:
Article
País de afiliación:
India