A novel splice site mutation of CRYBA3/A1 gene associated with congenital cataract in a Chinese family.
Int J Ophthalmol
; 10(1): 1-5, 2017.
Article
em En
| MEDLINE
| ID: mdl-28149769
ABSTRACT
AIM:
To identify the disease-causing mutation responsible for the presence of congenital cataract in a Chinese family.METHODS:
The study recruited a four-generation Chinese pedigree affected by autosomal dominant congenital cataract (ADCC). Family history and the history of cataract extraction were recorded. Blood samples were collected from individuals for DNA extraction. Direct sequencing of congenital cataract-associated genes was performed. Single-strand conformational polymorphism and bioinformatic analysis were conducted to further study the mutation.RESULTS:
Direct sequencing revealed a novel splice site mutation of c.30-2 A>G in the CRYBA3/A1 gene. The mutation co-segregated within all affected individuals in the family and was not found in unaffected members or 100 unrelated normal controls. These results were further confirmed by single-strand conformational polymorphism and bioinformatic analysis using the Human Splicing Finder and MaxEnt online software and Annovar computer software.CONCLUSION:
c.30-2 A>G mutation of CRYBA3/A1 gene is a novel mutation and broadens the genetic spectrum of ADCC.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Idioma:
En
Revista:
Int J Ophthalmol
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
China