Article Text

Findings that shed new light on the possible pathogenesis of a disease or an adverse effect
Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract
  1. Surya Prakash G Ponnam1,
  2. Kekunnaya Ramesha2,
  3. Sushma Tejwani2,
  4. Balasubramanya Ramamurthy2,
  5. Chitra Kannabiran1
  1. 1
    Kallam Anji Reddy Molecular Genetics Laboratory, Brien Holden Eye Research Centre, L.V. Prasad Eye Institute, Hyderabad, India
  2. 2
    Jasti V Ramanamma Children’s Eye Care Centre, L.V. Prasad Eye Institute, Hyderabad, India
  1. Chitra Kannabiran, chitra{at}lvpei.org

Summary

GJA8 encodes connexin-50, a gap junction protein in the eye lens. Mutations in GJA8 have been reported in families with autosomal dominant cataract. The objective of this report was to identify the disease gene in a family with congenital cataract of autosomal recessive inheritance. Eight candidate genes were screened for pathogenic alterations in affected and unaffected family members and in normal unrelated controls. A single base insertion leading to frameshift at codon 203 of connexin 50 was found to co-segregate with disease in the family. These results confirm involvement of GJA8 in autosomal recessive cataract.

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Footnotes

  • Competing interests: none.

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