A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin

Mol Vis. 2008 Jun 17;14:1171-5.

Abstract

Purpose: To detect the underlying genetic defect in a family with three members in two generations affected with bilateral congenital cataract.

Methods: Detailed family history and clinical data were recorded. Mutation screening in the candidate genes, alphaA-crystallin (CRYAA), betaA1-crystallin (CRYBA1), betaB2-crystallin (CRYBB2), gammaA-gammaD-crystallins (CRYGA, CRYGB, CRYGC, and CRYGD), connexin-46 (GJA3), and connexin-50 (GJA8), was performed by bidirectional sequencing of the amplified products.

Results: Affected individuals had "balloon-like" cataract with prominent Y-sutural opacities. Sequencing of the candidate genes showed a heterozygous c.262C>A change in the gene for connexin 50 (GJA8), which is localized at 1q21, that resulted in the replacement of a highly conserved proline by glutamine (p.P88Q). This sequence change was not observed in 96 ethnically matched controls.

Conclusions: We report a p.P88Q mutation in GJA8 associated with Y-sutural cataract in a family of Indian origin. Mutations of the same codon have previously been described in British families with pulverulent cataract, suggesting that modifying factors may determine the type of cataract.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution*
  • Base Sequence
  • Cataract / congenital*
  • Cataract / genetics*
  • Child
  • Connexins / genetics*
  • DNA Mutational Analysis
  • Eye Proteins / genetics*
  • Family
  • Female
  • Genetic Predisposition to Disease*
  • Glutamine / genetics
  • Humans
  • India / ethnology
  • Male
  • Molecular Sequence Data
  • Mutation / genetics*
  • Pedigree
  • Phenotype
  • Proline / genetics
  • United Kingdom

Substances

  • Connexins
  • Eye Proteins
  • connexin 50
  • Glutamine
  • Proline