Article
Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the P501T of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy.
American journal of ophthalmology - 1 Jul 2000
Ha N T, Fujiki K, Hotta Y, Nakayasu K, Kanai A
Abstract excerpt
PURPOSE: To analyze BIGH3 and M1S1 genes in two Japanese brothers with gelatinous drop-like corneal dystrophy and five unaffected family members. METHODS: DNA was extracted, and each part of the two genes was amplified and directly sequenced. RESULTS: On the BIGH3 gene, a heterozygous P501T mutation was found in the elder brother and three unaffected family members. On the M1S1 gene, both brothers with gelatinous...
Topics
- Adult
- Aged
- Aged, 80 and over
- Antigens, Neoplasm
- Cell Adhesion Molecules
- Corneal Dystrophies, Hereditary
- DNA Mutational Analysis
- Epithelial Cell Adhesion Molecule
- Extracellular Matrix Proteins
- Female
- Humans
- Japan
- Male