Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis

Am J Ophthalmol. 2002 Sep;134(3):465-7. doi: 10.1016/s0002-9394(02)01542-8.


Purpose: To report a novel de novo mutation in the cone-rod homeobox (CRX) gene in a Japanese patient with Leber congenital amaurosis (LCA).

Methods: The CRX gene was analyzed by direct genomic sequencing in a patient with LCA and in his healthy parents. A complete ophthalmologic examination was performed on the family.

Results: A heterozygotic deletion of G at nucleotid 520 in CRX, predicting a frameshift in codon 174 and a premature termination of translation [Ala174(1-bp del)], was identified in the proband. The mutation was not present in his unaffected parents.

Conclusion: A novel de novo mutation in CRX was found in a Japanese patient with LCA.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Blindness / genetics*
  • DNA Mutational Analysis
  • Frameshift Mutation*
  • Gene Deletion
  • Homeodomain Proteins / genetics*
  • Humans
  • Male
  • Optic Atrophy, Hereditary, Leber / genetics*
  • Pedigree
  • Trans-Activators / genetics*
  • Visual Acuity


  • Homeodomain Proteins
  • Trans-Activators
  • cone rod homeobox protein