Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract.

@article{Ponnam2007MutationOT,
  title={Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract.},
  author={Surya Prakash Goud Ponnam and Kekunnaya Ramesha and Sushma Tejwani and Balasubramanya Ramamurthy and Chitra Kannabiran},
  journal={Journal of medical genetics},
  year={2007},
  volume={44 7},
  pages={e85}
}
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… CONTINUE READING

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