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

J Med Genet. 2007 Jul;44(7):e85. doi: 10.1136/jmg.2007.050138.


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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Cataract / genetics*
  • Connexins / genetics*
  • DNA Mutational Analysis
  • DNA Primers / genetics
  • Electrophoresis, Polyacrylamide Gel
  • Eye Proteins / genetics*
  • Frameshift Mutation / genetics*
  • Genes, Recessive / genetics
  • Humans
  • Molecular Sequence Data
  • Pedigree


  • Connexins
  • DNA Primers
  • Eye Proteins
  • connexin 50