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Extremely varied phenotypes in granular corneal dystrophy type 2 heterozygotes.

Authors
 Kyung Eun Han  ;  Seung-il Choi  ;  Woo Suk Chung  ;  Se Hwan Jung  ;  Nicholas Katsanis  ;  Tae-im Kim  ;  Eung Kweon Kim 
Citation
 Molecular Vision, Vol.18 : 1755-1762, 2012 
Journal Title
 Molecular Vision 
ISSN
 1090-0535 
Issue Date
2012
Abstract
PURPOSE: To investigate the phenotypic variability of patients bearing the heterozygous R124H mutation in the TGFBI (transforming growth factor-beta-induced) gene that causes granular corneal dystrophy type 2 (GCD2). METHODS: We describe the phenotypic range of GCD2 heterozygotes for the common R124H mutation in TGFBI; seven with an extremely mild phenotype and six with an extremely severe phenotype. Detailed slit-lamp photographs of these patients were generated. All patients had no history of ocular surgery and were diagnosed as being heterozygous for GCD2 by DNA analysis from peripheral blood. Expression levels of transforming growth factor-beta-induced protein (TGFBIp) were compared among cultured corneal fibroblasts from ten normal donors. RESULTS: We report profound differences in the severity of the phenotype across our case series. Two patients with a mild phenotype were diagnosed as unaffected at presentation; however follow-up examinations revealed granular deposits. Importantly, we also observed familial clustering of phenotypic variance; five patients from two families with a mild phenotype showed a similarly mild phenotype within family members. Similarly, six patients from two families with severe phenotypes showed corneal deposits with similar patterns and severity within each distinct family, but distinct patterns between families. TGFBIp expressions from different donor derived cultured corneal fibroblasts were different between one another. CONCLUSIONS: GCD2 heterozygotes have extremely varied phenotypes between individual patients. However phenotypes were broadly consistent within families, suggesting that the observed variable expressivity might be regulated by other genetic factors that could influence the abundance of TGFBIp or the function of the pathway. From a clinical perspective, our data also highlighted that genetic analysis and meticulous slit-lamp examination in both eyes at multiple time intervals is necessary.
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/91479
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Yonsei Biomedical Research Center (연세의생명연구원)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실)
1. Journal Papers (연구논문) > 5. Research Institutes (연구소) > Corneal Dystrophy Research Institute (각막이상증연구소)
Yonsei Authors
김응권(Kim, Eung Kweon) ; 김태임(Kim, Tae Im) ; 정세환(Jung, Se Hwan) ; 최승일(Choi, Seung Il) ; 한경은(Han, Kyung Eun)
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