Leu518Pro mutation of the beta ig-h3 gene causes lattice corneal dystrophytype I

Citation
S. Endo et al., Leu518Pro mutation of the beta ig-h3 gene causes lattice corneal dystrophytype I, AM J OPHTH, 128(1), 1999, pp. 104-106
Citations number
5
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Optalmology,"da verificare
Journal title
AMERICAN JOURNAL OF OPHTHALMOLOGY
ISSN journal
0002-9394 → ACNP
Volume
128
Issue
1
Year of publication
1999
Pages
104 - 106
Database
ISI
SICI code
0002-9394(199907)128:1<104:LMOTBI>2.0.ZU;2-K
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 typ e I. Exon 12 of the beta ig-h3 gene was amplified and analyzed with a molec ular biologic method. Clinical data were also collected. RESULTS: Three generations of this family have been positively diagnosed wi th lattice corneal dystrophy, indicating autosomal dominant inheritance, We found a heterozygous point mutation that segregates with the disease pheno type. It was a single base-pair transition (CTG to CCG, Leu to Pro). CONCLUSION: Although it is extremely rare compared with the Arg124Cys mutat ion of the beta ig-h3 gene, Leu518Pro mutation of the beta ig-h3 also cause s lattice corneal dystrophy type I. (Am J Ophthalmol 1999;128:104-106. (C) 1999 by Elsevier Science Inc, All rights reserved.).