Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract.
BACKGROUND
GJA8 encodes connexin-50, a gap junction protein in the eye lens. Mutations in GJA8 have been reported in families with autosomal dominant cataract.


OBJECTIVE
To identify the disease gene in a family with congenital cataract of autosomal recessive inheritance.


METHODS
Eight candidate genes were screened for pathogenic alterations in affected and unaffected family members and in normal unrelated controls.


RESULTS
A single base insertion leading to frameshift at codon 203 of connexin 50 was found to co-segregate with disease in the family.


CONCLUSIONS
These results confirm involvement of GJA8 in autosomal recessive cataract.
Ponnam
Surya Prakash G
SP
Kallam Anji Reddy Molecular Genetics Laboratory, L.V. Prasad Eye Institute, Road No.2, Banjara Hills, Hyderabad 500 034, India.
Ramesha
Kekunnaya
K
Tejwani
Sushma
S
Ramamurthy
Balasubramanya
B
Kannabiran
Chitra
C
D000595:Amino Acid Sequence; D001483:Base Sequence; D002386:Cataract / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D004591:Electrophoresis, Polyacrylamide Gel; D005136:Eye Proteins / Q000235:genetics*; D016368:Frameshift Mutation / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D010375:Pedigree; D000099264:Connexin 50
D017630:Connexins; D017931:DNA Primers; D005136:Eye Proteins; D000099264:Connexin 50