title: A recurrent mutation in CRYBA1 is associated with an autosomal dominant congenital nuclear cataract disease in a Chinese family.
abstract: OBJECTIVE
  Congenital cataracts are a clinically and genetically heterogeneous lens disorder. The purpose of this study was to identify the genetic mutation and the molecular phenotype responsible for the presence of an autosomal dominant congenital nuclear cataract disease in a Chinese family.
  
  
  METHODS
  Patients were given a physical examination and their blood samples were collected for DNA extraction. Genotyping was performed by microsatellite markers, and a logarithm of odds (LOD) score was calculated using the LINKAGE programs. Mutation detection was performed by direct sequencing.
  
  
  RESULTS
  Linkage to the crystallin beta A1 (CRYBA1) locus was identified. DNA sequencing of the gene revealed a c.279-281delGAG mutation in exon 4, which resulted in a glycine residue deletion at position 91 (ΔG91). This mutation was identified in all of the affected individuals but was not found in the 100 control chromosomes.
  
  
  CONCLUSIONS
  Our results identify that the c.279-281delGAG mutation in CRYBA1 is responsible for the autosomal dominant congenital nuclear cataract disease in this Chinese family.
authors.affiliation: Department of Opthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
authors.forename: Guoxing
authors.initials: G
authors.lastname: Yang
authors.forename: Xinling
authors.initials: X
authors.lastname: Zhai
authors.forename: Jialiang
authors.initials: J
authors.lastname: Zhao
mesh_terms: D000368:Aged; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002386:Cataract / Q000151:congenital / Q000235:genetics*; D005091:Exons; D005260:Female; D005787:Gene Frequency; D005799:Genes, Dominant; D056726:Genetic Association Studies; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007908:Lens, Crystalline / Q000473:pathology*; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D017422:Sequence Analysis, DNA; D038205:beta-Crystallin A Chain / Q000235:genetics*
chemical_list: C489108:CRYBA1 protein, human; D038205:beta-Crystallin A Chain