Linkage of congenital hereditary endothelial dystrophy to chromosome 20

Toma, N. M. G.; Ebenezer, Neil D.; Inglehearn, C. F.; Plant, Catherine; Ficker, Linda; Bhattacharya, SS

doi:10.1093/hmg/4.12.2395

Cited by 89 publications

(59 citation statements)

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“…The identification of the genetic basis of PPCD1 will also likely result in elucidation of the genetic basis of CHED1, which has been mapped to the overlapping interval defined by the flanking markers D20S48 and D20S471 6 (Fig. 4).…”

Section: Discussionmentioning

confidence: 99%

“…1 bordered by markers D20S98 and D20S108; the refined candidate interval that we report, as defined by flanking markers D20S182 and D20S195; the refined interval bordered by D20S48 and D20S139 reported by Gwilliam and colleagues; 5 and the CHED1 interval, defined by the markers D20S48 and D20S471. 6 The PPCD1 candidate interval that is common to each of the three studies is defined by the markers D20S182 and D20S139. The VSX1 gene is located outside of this common interval.…”

Section: Discussionmentioning

confidence: 99%

“…Their 2.7 cM critical interval defined by the markers D20S48 and D20S139 overlaps the interval to which the autosomal dominant form of congenital hereditary endothelial dystrophy (CHED 1, MIM 121700) has been mapped, leading to speculation that the two conditions may be caused by different mutations in the same gene. 6 Biswas and colleagues 7 also reported that PPCD is associated with a mutation in the collagen, type VIII, alpha 2 gene (COL8A2, MIM 120252), located on the short arm of chromosome 1. They chose to screen the COL8A2 gene in a patient with PPCD after a genome-wide linkage analysis in a family with early-onset Fuchs endothelial corneal dystrophy displayed linkage to a 6-to 7 cM region on chromosome 1 containing the COL8A2 gene.…”

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confidence: 99%

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Replication and refinement of linkage of posterior polymorphous corneal dystrophy to the posterior polymorphous corneal dystrophy 1 locus on chromosome 20

Yellore

Papp

Sobel

et al. 2007

Genetics in Medicine

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Purpose: The study purpose was to identify the genetic basis of posterior polymorphous corneal dystrophy, an autosomal dominant disorder of the corneal endothelium that is associated with the development of corneal edema, necessitating corneal transplantation for visual rehabilitation. Glaucoma also develops in up to 40% of patients with posterior polymorphous corneal dystrophy. Methods: Linkage analysis, using microsatellite markers previously used to demonstrate linkage of posterior polymorphous corneal dystrophy to the chromosome 20 candidate region known as posterior polymorphous corneal dystrophy 1, was performed in 29 members of a family with posterior polymorphous corneal dystrophy. Thirty-four microsatellite markers were used to refine the posterior polymorphous corneal dystrophy 1 interval. TCF8, located on chromosome 10, was screened in an affected family member to exclude posterior polymorphous corneal dystrophy 3. Results: Significant evidence of linkage to the posterior polymorphous corneal dystrophy 1 interval was obtained with both single-point and multipoint analyses. The largest single-point log odds ratio score obtained was 4.38 ( ϭ 0) at marker D20S471; within 4.7 Mbp (7.2 cM) of D20S471 eight markers provided single-point log odds ratio scores of greater than 3.00 and three markers provided single-point log odds ratio scores greater than 4.00. The largest multipoint log odds ratio score obtained was 4.83, found across the adjacent markers D20S844, D20S191, D20S484, and D20S111. The support interval for posterior polymorphous corneal dystrophy 1 in the family we report is approximately 13.5 Mbp (10 cM) long and lies between the markers D20S182 and D20S195.Eleven markers have multipoint log odds ratio scores greater than 4.0 within this region. No coding region mutations were identified in TCF8 in an affected member of the family, effectively excluding posterior polymorphous corneal dystrophy 3. Conclusions: The originally described 19.8 cM posterior polymorphous corneal dystrophy 1 candidate disease interval has been refined to a 10 cM interval between markers D20S182 and D20S195. A portion of this refined interval overlaps a more recently reported posterior polymorphous corneal dystrophy 1 interval, with only 20 known and predicted genes mapped to the 2.4 cM common interval. Genet Med 2007:9(4):228-234.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

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Replication and refinement of linkage of posterior polymorphous corneal dystrophy to the posterior polymorphous corneal dystrophy 1 locus on chromosome 20

Yellore

Papp

Sobel

et al. 2007

Genetics in Medicine

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“…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.…”

Section: Primary Corneal Endotheliopathiesmentioning

confidence: 99%

Biology of the corneal endothelium in health and disease

Bourne

2003

Eye

258

198

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“…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.…”

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confidence: 99%