학술논문
Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p
Document Type
Report
Author
Source
American Journal of Human Genetics. Jan 8, 2010, Vol. 86 Issue 1, p45, 9 p.
Subject
Language
English
ISSN
0002-9297
Abstract
A study reports five missense mutations in TCF8, a transcription factor whose deficiency causes posterior polymorphous corneal dystrophy (PPCD) in late-onset Fuchs corneal dystrophy (FCD) patients. A genome-wide scan also reveals their association with a late-onset FCD locus FCD4 on chromosome 9p, suggesting that PPCD and FCD are allelic variants of the same disease and the interaction of their genes results in an increased severity of FCD manifestation.