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A Korean Patient with Lattice Corneal Dystrophy Type IV with Leu527Arg Mutation in the TGFBI Gene

Authors
 Jinsun Kim  ;  Kyung A Lee  ;  Eung Kweon Kim  ;  Hyung Keun Lee 
Citation
 Korean Journal of Ophthalmology, Vol.28(1) : 83-85, 2014 
Journal Title
Korean Journal of Ophthalmology
ISSN
 1011-8942 
Issue Date
2014
MeSH
Aged, 80 and over ; Corneal Dystrophies, Hereditary/diagnosis ; Corneal Dystrophies, Hereditary/genetics* ; Corneal Dystrophies, Hereditary/metabolism ; DNA/genetics* ; DNA Mutational Analysis ; Extracellular Matrix Proteins/genetics* ; Extracellular Matrix Proteins/metabolism ; Female ; Humans ; Mutation* ; Pedigree ; Polymerase Chain Reaction ; Transforming Growth Factor beta/genetics* ; Transforming Growth Factor beta/metabolism
Keywords
Hereditary corneal dystrophies ; Transforming growth factor beta
Abstract
An 87-year-old woman visited our clinic for a scheduled cataract surgery. At the time of preoperative evaluation, slit lamp examination showed lattice-shaped and granular deposits with asymmetrical patterns in the stroma of both corneas. Genomic DNA samples of the patient, amplified by polymerase chain reaction, showed a single nucleotide substitution, c. 1580T>G (p.L527R), in the transforming growth factor-β-induced TGFBI gene. We also found two additional SNP mutations, c.1620T>C (p.F540F) and c.1678+23G>A, along with the well-known L527R mutation. This is the first report of lattice corneal dystrophy type IV with an L527R mutation outside of Japan, and could challenge the idea that L527R is caused by a mutation from a single Japanese ancestor.
Files in This Item:
T201402427.pdf Download
DOI
10.3341/kjo.2014.28.1.83
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Eung Kweon(김응권) ORCID logo https://orcid.org/0000-0002-1453-8042
Kim, Jin Sun(김진선)
Lee, Kyung A(이경아) ORCID logo https://orcid.org/0000-0001-5320-6705
Lee, Hyung Keun(이형근) ORCID logo https://orcid.org/0000-0002-1123-2136
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/99334
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