A novel missense mutation in a Japanese patient with gelatinous droplike corneal dystrophy

Am J Ophthalmol. 2005 Jan;139(1):186-8. doi: 10.1016/j.ajo.2004.06.090.


Purpose: To report a novel missense mutation in TACSTD2 gene, L186P, responsible for gelatinous droplike dystrophy (GDLD).

Design: Case report and experimental study.

Method: A 10-year-old Japanese boy suffering from typical GDLD was studied. A 1.1-kb DNA fragment of the TACSTD2 gene was amplified and analyzed using a molecular biological method. cDNA from the patient's cornea was also analyzed to determine which allele was expressed in the patient's corneal epithelium.

Results: Sequence analysis revealed that the patient is a compound heterozygote for the Q118X mutation and the L186P, the first missense mutation found in Japanese GDLD. Polymerase chain reaction-restriction fragment length polymorphism analysis from cDNA of patient's cornea revealed that the L186P missense mutation allele is expressed in the patient's corneal epithelium.

Conclusion: We describe a novel mutation in one case of Japanese GDLD. The results confirm that the missense mutation L186P in the TACSTD2 gene is also responsible for the GDLD phenotype.

Publication types

  • Case Reports

MeSH terms

  • Antigens, Neoplasm / genetics*
  • Cell Adhesion Molecules / genetics*
  • Child
  • Corneal Dystrophies, Hereditary / ethnology
  • Corneal Dystrophies, Hereditary / genetics*
  • DNA Mutational Analysis
  • DNA, Complementary / analysis
  • Epithelial Cell Adhesion Molecule
  • Humans
  • Japan
  • Male
  • Mutation, Missense*
  • Phenotype
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length


  • Antigens, Neoplasm
  • Cell Adhesion Molecules
  • DNA, Complementary
  • Epithelial Cell Adhesion Molecule