A deletion mutation in the betaA1/A3 crystallin gene ( CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family

Hum Genet. 2004 Jan;114(2):192-7. doi: 10.1007/s00439-003-1049-7. Epub 2003 Nov 4.


Congenital cataracts are an important cause of blindness worldwide. In a family of Chinese descent, a dominant congenital nuclear cataract locus was mapped to chromosome 17q11.1-12. The maximum LOD score, 2.49, at recombination fraction 0, was obtained for marker D17S1294. The results of both linkage and haplotype analyses defined a disease-gene to an 11.78-cM region harboring the gene coding for betaA1/A3 crystallin ( CRYBA1/A3). Mutation analysis of the CRYBA1/A3 gene identified a 3-bp deletion in exon 4, which cosegregated with the disease risk in this family and was not observed in 100 normal chromosomes. This mutation resulted in the deletion of a highly conserved glycine at codon 91 (DeltaG91) and could be associated with an incorrect folding of betaA1/A3 crystallin. It highlights the physiological importance of crystallin and supports the role of CRYBA1/A3 in human cataracts formation.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Cataract / congenital*
  • Cataract / genetics*
  • China
  • Chromosome Mapping
  • Chromosomes, Human, Pair 17*
  • Crystallins / genetics*
  • DNA Primers / chemistry
  • Female
  • Genes, Dominant
  • Genetic Linkage
  • Genetic Markers
  • Genotype
  • Humans
  • Lod Score
  • Male
  • Microsatellite Repeats
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Sequence Deletion*
  • Sequence Homology, Amino Acid
  • beta-Crystallin A Chain


  • CRYBA1 protein, human
  • Crystallins
  • DNA Primers
  • Genetic Markers
  • beta-Crystallin A Chain