Molecular genetics of Chinese families with TGFBI corneal dystrophies.
Mol Vis
; 17: 380-7, 2011 Feb 04.
Article
em En
| MEDLINE
| ID: mdl-21311742
ABSTRACT
PURPOSE:
To identify clinical features and mutations within the transforming growth factor-beta-induced (TGFBI) gene in three Chinese families with Granular corneal dystrophy, type 1 (GCD1) and Granular corneal dystrophy, type 2 (GCD2).METHODS:
Clinical features of GCD1 and GCD2 in three Chinese families were studied with slit-lamp and in vivo laser scanning confocal microscopy (LSCM). Molecular genetic analysis was performed on nine patients and fifteen unaffected individuals from these families. All exons of TGFBI were amplified by polymerase chain reaction (PCR) and sequenced.RESULTS:
Morphological changes in the cornea among affected individuals from three Chinese families examined by in vivo LSCM were almost the same. A heterozygous mutation C>T (R555W) was identified in exon 12 of TGFBI in patients of family A with GCD1. Another heterozygous mutation G>A (R124H) was found in exon 4 of TGFBI in affected members of family B and C with GCD2.CONCLUSIONS:
Mutations R555W and R124H in TGFBI were identified in three Chinese families with GCD. Even though there are a variety of mutations in TGFBI of GCD, the different subtypes of GCD (GCD1, GCD2, and GCD3) are in fact the same disorder. Our work supports the hypothesis that corneal dystrophies with the common genetic basis in TGFBI should be grouped together as TGFBI corneal dystrophies.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Distrofias Hereditárias da Córnea
/
Fator de Crescimento Transformador beta1
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
/
Adult
/
Aged
/
Aged80
/
Child
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Child, preschool
/
Female
/
Humans
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Male
/
Middle aged
País/Região como assunto:
Asia
Idioma:
En
Revista:
Mol Vis
Assunto da revista:
BIOLOGIA MOLECULAR
/
OFTALMOLOGIA
Ano de publicação:
2011
Tipo de documento:
Article