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S. Boutboul, C. Vetu, M. Abitbol, M. Menasche, V. Borderie, L. Laroche; No Pathogenic Mutations Identified in the COL8A2 Gene in French Families of Fuchs Corneal Dystrophy and CHED. Invest. Ophthalmol. Vis. Sci. 2009;50(13):2304.
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To investigate the genetic basis of early-onset familial Fuchs endothelial corneal dystrophy (FECD) and Corneal hereditary Endothelial Dystrophy (CHED) in French families through screening of the COL8A2 gene, in which mutations have been associated with both early and late-onset, familial and sporadic FECD and has been suggested to be a candidate gene for CHED syndrome.
After informed consent, we screened COL8A2 gene of ten patients affected by early onset Fuchs endothelial dystrophy and five unrelated affected patients of Congenital Hereditary Endothelial Dystrophy. DNA extraction, PCR amplification, and direct sequencing of the COL8A2 gene was performed in all affected patients.
Screening of the COL8A2 gene did not reveal exonic sequence variants in any affected individuals but revealed known intronic variation in hundred percent of patients. In the COL8A2 gene, the previously identified mutations presumed to play a pathogenic role in cases of familial FECD (Arg155Gln, Leu450Trp, and Gln455Lys) were not discovered in any of the affected patients.
The absence of pathogenic mutations identified in the COL8A2 genes in affected members of 10 pedigrees with familial FECD and 5 CHED indicates that other genetic factors are involved in the development of these corneal dystrophies.
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