title: Arg124Cys mutation of the betaig-h3 bene in a Japanese family with lattice corneal dystrophy type I.
abstract: To characterize severe lattice corneal dystrophy, we analyzed the betaig-h3 gene, clinical features, histological findings, and genotype-phenotype correlation in an affected Japanese family. Deoxyribonucleic acid was extracted from leukocytes in 16 members (12 affected and 4 unaffected) of a Japanese family with lattice corneal dystrophy type I. Exon 4 of the betaig-h3 gene was amplified and analyzed using molecular biological methods. Clinical and pathological data were also collected. We found a heterozygous point mutation that causes the disease phenotype. It was a single base-pair transition leading to an amino acid substitution (CGC-->TGC, Arg124Cys). The phenotypic variation within families was not recognized. The affected members in the pedigree demonstrated severe visual disturbance in the third decade and required keratoplasty. Histopathological examination revealed amyloid deposits consisting of short and thin amyloid fibers and lattice corneal dystrophy type I. The heterozygous Arg124Cys mutation reported in Caucasian lattice corneal dystrophy caused severe lattice corneal dystrophy consisting of short and thin amyloid fibers in a Japanese family. Based on our study of many members of the family, we are able to construct the natural course of this disorder from its earliest clinical findings through its late manifestations.
authors.affiliation: Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Hotta
authors.forename: K
authors.initials: K
authors.lastname: Fujiki
authors.forename: K
authors.initials: K
authors.lastname: Ono
authors.forename: T
authors.initials: T
authors.lastname: Fujimaki
authors.forename: K
authors.initials: K
authors.lastname: Nakayasu
authors.forename: T
authors.initials: T
authors.lastname: Yamaguchi
authors.forename: A
authors.initials: A
authors.lastname: Kanai
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003317:Corneal Dystrophies, Hereditary / Q000150:complications / Q000235:genetics* / Q000601:surgery; D004247:DNA / Q000032:analysis; D017931:DNA Primers / Q000737:chemistry; D016326:Extracellular Matrix Proteins; D005190:Family; D005260:Female; D006801:Humans; D007564:Japan; D015948:Keratoplasty, Penetrating; D008297:Male; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D016212:Transforming Growth Factor beta / Q000235:genetics*; D014786:Vision Disorders / Q000209:etiology; D000099222:betaIG-H3 Protein
chemical_list: D004247:DNA; D017931:DNA Primers; D016326:Extracellular Matrix Proteins; D009363:Neoplasm Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein