title: A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.
abstract: OBJECTIVE
  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.
authors.affiliation: Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India. vanita_kumar@yahoo.com
authors.forename: Vanita
authors.initials: V
authors.lastname: Vanita
authors.forename: Jai Rup
authors.initials: JR
authors.lastname: Singh
authors.forename: Daljit
authors.initials: D
authors.lastname: Singh
authors.forename: Raymonda
authors.initials: R
authors.lastname: Varon
authors.forename: Karl
authors.initials: K
authors.lastname: Sperling
mesh_terms: D019943:Amino Acid Substitution; D001483:Base Sequence; D002386:Cataract / Q000151:congenital* / Q000235:genetics*; D002648:Child; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D005973:Glutamine / Q000235:genetics; D006801:Humans; D007194:India / Q000208:ethnology; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011392:Proline / Q000235:genetics; D006113:United Kingdom; D000099264:Connexin 50
chemical_list: D017630:Connexins; D005136:Eye Proteins; D005973:Glutamine; D011392:Proline; D000099264:Connexin 50