Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing.
Indian J Biochem Biophys
;
2013 Aug; 50(4): 253-258
Article
in English
| IMSEAR
| ID: sea-148604
ABSTRACT
Congenital cataract, a clinically and genetically heterogeneous lens disorder is defined as any opacity of the lens presented from birth and is responsible for approximately 10% of worldwide childhood poor vision or blindness. To identify the genetic defect responsible for congenital nuclear cataract in a four-generation Chinese Han family, exome and direct Sanger sequencings were conducted and a missense variant c.139G>A (p.D47N) in the gap junction protein-alpha 3 gene (GJA3) was identified. The variant co-segregated with patients of the family and was not observed in unaffected family members or normal controls. The above findings indicated that the variant was a pathogenic mutation. The mutation p.D47N was found in the first extracellular loop (E1) domain of GJA3 protein. Our data suggest that exome sequencing is a powerful tool to discover mutation(s) in cataract, a disorder with high genetic heterogeneity. Our findings may also provide new insights into the cause and diagnosis of congenital nuclear cataract and have implications for genetic counseling.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Pedigree
/
Phenotype
/
Cataract
/
Female
/
Humans
/
Male
/
Cattle
/
DNA Mutational Analysis
/
Base Sequence
/
Connexins
Type of study:
Diagnostic study
/
Prognostic study
Language:
English
Journal:
Indian J Biochem Biophys
Year:
2013
Type:
Article
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