A missense mutation in CRYBA4 associated with congenital cataract and microcornea

Mol Vis. 2010 Jun 5;16:1019-24.

Abstract

Purpose: To identify mutations in a Chinese family with congenital cataract and microcornea.

Methods: Detailed family history and clinical data were recorded. Genomic DNA was extracted from leukocytes of venous blood of the patients and noncarriers in this family along with 100 normal individuals. All six exons of crystallin, beta A4 gene (CRYBA4) were amplified by PCR methods and direct sequencing.

Results: We identified a c.225G>T sequence change that led to an amino acid substitution G64W in the CRYBA4-induced protein in two patients of this family; this nucleotide substitution was not detected in the other individuals.

Conclusions: A novel missense mutation in CRYBA4 was identified in our study. It expands the mutation spectrum of CRYBA4 and provides useful information to the study of molecular pathogenesis of cataract and microcornea.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Substitution
  • Base Sequence
  • Cataract / congenital
  • Cataract / genetics*
  • Cataract / pathology
  • Child
  • Child, Preschool
  • Cornea / abnormalities*
  • Cornea / pathology
  • Eye Abnormalities / genetics*
  • Eye Abnormalities / pathology
  • Female
  • Glycine
  • Guanine
  • Humans
  • Male
  • Models, Chemical
  • Molecular Biology / methods
  • Mutation, Missense*
  • Pedigree
  • Thymine
  • Tryptophan
  • Young Adult
  • beta-Crystallin A Chain / chemistry
  • beta-Crystallin A Chain / genetics*

Substances

  • CRYBA4 protein, human
  • beta-Crystallin A Chain
  • Guanine
  • Tryptophan
  • Thymine
  • Glycine