Leu518Pro mutation of the beta ig-h3 gene causes lattice corneal dystrophy type I.

Abstract

PURPOSE:

To describe a Japanese family with lattice corneal dystrophy type I, which segregates with a novel mutation, Leu518Pro of the beta ig-h3 gene.

METHODS:

DNA was extracted from leukocytes in four members (three affected and one unaffected) of a Japanese family with lattice corneal dystrophy type I. Exon 12 of the beta ig-h3 gene was amplified and analyzed with a molecular biologic method. Clinical data were also collected.

RESULTS:

Three generations of this family have been positively diagnosed with lattice corneal dystrophy, indicating autosomal dominant inheritance. We found a heterozygous point mutation that segregates with the disease phenotype. It was a single base-pair transition (CTG to CCG, Leu to Pro).

CONCLUSION:

Although it is extremely rare compared with the Arg124Cys mutation of the beta ig-h3 gene, Leu518Pro mutation of the beta ig-h3 also causes lattice corneal dystrophy type I.

• Authors: S Endo, T H Nguyen, K Fujiki, Y Hotta, K Nakayasu, T Yamaguchi, N Ishida, A Kanai
• Journal: American journal of ophthalmology (Am J Ophthalmol) Vol. 128 Issue 1 Pg. 104-6 (Jul 1999) ISSN: 0002-9394 [Print] United States
• PMID: 10482106 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Extracellular Matrix Proteins
• Neoplasm Proteins
• Transforming Growth Factor beta
• betaIG-H3 protein
• DNA
• Proline
• Leucine

Topics

• Adolescent
• Adult
• Base Sequence
• Cornea (pathology)
• Corneal Dystrophies, Hereditary (genetics, pathology, surgery)
• DNA (analysis)
• Exons (genetics)
• Extracellular Matrix Proteins
• Female
• Humans
• Keratoplasty, Penetrating
• Leucine (genetics)
• Male
• Middle Aged
• Molecular Sequence Data
• Neoplasm Proteins (genetics)
• Pedigree
• Point Mutation
• Proline (genetics)
• Transforming Growth Factor beta (genetics)