Localization of the Gene for Autosomal Recessive Congenital Hereditary Endothelial Dystrophy (CHED2) to Chromosome 20 by Homozygosity Mapping

Biology of the corneal endothelium in health and disease

“…There is some overlap between PPD and CHED, both pathologically, 22,23 and genetically. [24][25][26][27] A recent study found two families with Fuchs' dystrophy and a family with PPD with the same mutation in the gene for collagen VIII. 20 Therefore, all three endothelial dystrophies may have genetic abnormalities in common.…”

Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)

“…CHED can be an autosomal-dominant (CHED1 (MIM %121700) or recessive (CHED2 (MIM %217700)) disease, with the latter being more common and more severe. Both map to chromosome 20 at two distinct loci 3,4 . The CHED2 locus is on 20p13 within an 8-cM (3.5-Mb) interval flanked by the markers D20S113 and D20S882.…”

“…The CHED2 locus is on 20p13 within an 8-cM (3.5-Mb) interval flanked by the markers D20S113 and D20S882. To date, only two linked families have been reported in the literature 4,5 . We identified a third, a consanguineous recessive CHED family from Myanmar in whom genetic analysis refined the CHED2 locus to a B 2.2-Mb interval containing at least 30 genes (Supplementary Methods, Supplementary Note and Supplementary Fig.…”

Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy

“…Dominant CHED (CHED1) was then mapped to a 2.7 cM region within this interval, suggesting either that there is a cluster of genes in this region or that there is allelic heterogeneity (18,19). In addition an autosomal recessive form of CHED (CHED2) maps to 20p (20).…”