A family with autosomal dominant primary congenital cataract associated with a CRYGC mutation: evidence of clinical heterogeneity.
Mol Vis
; 13: 1333-8, 2007 Jul 26.
Article
em En
| MEDLINE
| ID: mdl-17679936
PURPOSE: To describe a family with primary congenital cataract associated with a CRYGC mutation. METHODS: One family with several affected members with primary congenital cataract and 170 healthy controls were examined. DNA from leukocytes was isolated to analyze the CRYGA-D gene cluster. RESULTS: DNA sequencing analysis of the CRYGA-D gene cluster of the affected members showed the heterozygous missense mutation c.502C>T in the CRYGC gene. This transition mutation resulted in the substitution of Arg at position 168 by Trp. Analysis of the healthy members of the family and 170 unrelated controls showed a normal sequence of the CRYGA-D gene cluster. CONCLUSIONS: In the present study, we described a family with nuclear congenital cataract that segregated the CRYGC missense mutation c.502C>T. This mutation has been associated with the phenotype of lamellar cataract but is also considered a single nucleotide polymorphism (SNP) in the NCBI database. Our data and previous report support that R168W is the actual disease-causing mutation and should no longer be considered a SNP. This is the first case of phenotypic heterogeneity in the primary congenital cataract specifically associated with the R168W mutation in the CRYGC gene.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Catarata
/
Heterogeneidade Genética
/
Predisposição Genética para Doença
/
Gama-Cristalinas
/
Genes Dominantes
/
Mutação
Tipo de estudo:
Risk_factors_studies
Limite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Mol Vis
Assunto da revista:
BIOLOGIA MOLECULAR
/
OFTALMOLOGIA
Ano de publicação:
2007
Tipo de documento:
Article
País de afiliação:
México
País de publicação:
Estados Unidos