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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. 1Kallam Anji Reddy Molecular Genetics Laboratory, Brien Holden Eye Research Centre, L.V. Prasad Eye Institute, Hyderabad, India
  2. 2Jasti V Ramanamma Children’s Eye Care Centre, L.V. Prasad Eye Institute, Hyderabad, India
  1. Correspondence to:
 Dr Chitra Kannabiran
 Kallam Anji Reddy Molecular Genetics Laboratory, L.V. Prasad Eye Institute, Road No.2, Banjara Hills, Hyderabad 500 034, India; chitra{at}lvpei.org

Abstract

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.

  • SSCP, single-strand conformation polymorphism
  • GJA8
  • connexin
  • hereditary cataract
  • recessive cataract
  • mutations

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