title: Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract.
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.
authors.affiliation: Kallam Anji Reddy Molecular Genetics Laboratory, L.V. Prasad Eye Institute, Road No.2, Banjara Hills, Hyderabad 500 034, India.
authors.forename: Surya Prakash G
authors.initials: SP
authors.lastname: Ponnam
authors.forename: Kekunnaya
authors.initials: K
authors.lastname: Ramesha
authors.forename: Sushma
authors.initials: S
authors.lastname: Tejwani
authors.forename: Balasubramanya
authors.initials: B
authors.lastname: Ramamurthy
authors.forename: Chitra
authors.initials: C
authors.lastname: Kannabiran
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002386:Cataract / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D004591:Electrophoresis, Polyacrylamide Gel; D005136:Eye Proteins / Q000235:genetics*; D016368:Frameshift Mutation / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D010375:Pedigree; D000099264:Connexin 50
chemical_list: D017630:Connexins; D017931:DNA Primers; D005136:Eye Proteins; D000099264:Connexin 50