Linkage of posterior polymorphous corneal dystrophy to 20q11

Elise Héon; William D. Mathers; L. M.Alward Alward; Robert W. Weisenthal; Sara L.F. Sunden; Jill A. Fishbaugh; Chris M. Taylor; Jay H. Krachmer; Val C. Sheffield; Edwin M. Stone

doi:10.1093/hmg/4.3.485

Linkage of posterior polymorphous corneal dystrophy to 20q11

Elise Héon, William D. Mathers, L. M.Alward Alward, Robert W. Weisenthal, Sara L.F. Sunden, Jill A. Fishbaugh, Chris M. Taylor, Jay H. Krachmer, Val C. Sheffield, Edwin M. Stone

Research output: Contribution to journal › Article › peer-review

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Abstract

Posterior polymorphous dystrophy (PPMD) is an autosomal dominant disorder of the cornea that is clinically recognized by the presence of vesicles on the endothelial surface of the cornea. The corneal endothelium is normally a single layer of cells that lose their mitotic potential after development is complete. In PPMD, the endothelium is often multi-layered and has several other characteristics of an epithelium including the presence of desmosomes, tonofilaments, and microvilli. These abnormal cells retain their ability to divide and extend onto the trabecular meshwork to cause glaucoma in up to 40% of cases. A large family with 21 members affected with PPMD was genotyped with short tandem repeat polymorphisms distributed across the autosomal genome. Linkage was established with markers on the long arm of chromosome 20. The highest observed LOD score was 5.54 (θ = 0) with marker D20S45. Analysis of recombination events in four affected individuals revealed that the disease gene lies within a 30cM interval between markers D20S98 and D20S108. / 1995 Oxford University Press.

Original language	English (US)
Pages (from-to)	485-488
Number of pages	4
Journal	Human molecular genetics
Volume	4
Issue number	3
DOIs	https://doi.org/10.1093/hmg/4.3.485
State	Published - Mar 1995
Externally published	Yes

ASJC Scopus subject areas

Molecular Biology
Genetics
Genetics(clinical)

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@article{afcf24582a20447faeac4cc8e87598c3,

title = "Linkage of posterior polymorphous corneal dystrophy to 20q11",

abstract = "Posterior polymorphous dystrophy (PPMD) is an autosomal dominant disorder of the cornea that is clinically recognized by the presence of vesicles on the endothelial surface of the cornea. The corneal endothelium is normally a single layer of cells that lose their mitotic potential after development is complete. In PPMD, the endothelium is often multi-layered and has several other characteristics of an epithelium including the presence of desmosomes, tonofilaments, and microvilli. These abnormal cells retain their ability to divide and extend onto the trabecular meshwork to cause glaucoma in up to 40% of cases. A large family with 21 members affected with PPMD was genotyped with short tandem repeat polymorphisms distributed across the autosomal genome. Linkage was established with markers on the long arm of chromosome 20. The highest observed LOD score was 5.54 (θ = 0) with marker D20S45. Analysis of recombination events in four affected individuals revealed that the disease gene lies within a 30cM interval between markers D20S98 and D20S108. / 1995 Oxford University Press.",

author = "Elise H{\'e}on and Mathers, {William D.} and Alward, {L. M.Alward} and Weisenthal, {Robert W.} and Sunden, {Sara L.F.} and Fishbaugh, {Jill A.} and Taylor, {Chris M.} and Krachmer, {Jay H.} and Sheffield, {Val C.} and Stone, {Edwin M.}",

note = "Funding Information: The authors appreciate the enthusiastic participation of the family members and thank Luan Streb, Gretel Mattes, Brian Thompson, and Thomas Businga for their excellent technical assistance. The authors also appreciate Dr Robert Folberg's assistance in preparing and interpreting the light micrographs that appear as Figure 1. The authors greatly appreciate the unpublished STRP data generously shared by Dr James Weber. This work was supported in part by the Glaucoma Foundation, New York, NY; The Carver Charitable Trust; the National Retinitis Pigmentosa Foundation Fighting Blindness; the George Gund Foundation; the Grousbeck Family Foundation; the C.S. O'Brien Center for Macular Diseases; Public Health Service Research grants EY10539 and EY10564; an unrestricted grant from Research to Prevent Blindness, New York, N.Y.; the Canadian RP Research Foundation(EH); and, the Ontario Glaucoma Society (EH). Dr Stone is a Research to Prevent Blindness Dolly Green Scholar.",

year = "1995",

month = mar,

doi = "10.1093/hmg/4.3.485",

language = "English (US)",

volume = "4",

pages = "485--488",

journal = "Human molecular genetics",

issn = "0964-6906",

publisher = "Oxford University Press",

number = "3",

}

TY - JOUR

T1 - Linkage of posterior polymorphous corneal dystrophy to 20q11

AU - Héon, Elise

AU - Mathers, William D.

AU - Alward, L. M.Alward

AU - Weisenthal, Robert W.

AU - Sunden, Sara L.F.

AU - Fishbaugh, Jill A.

AU - Taylor, Chris M.

AU - Krachmer, Jay H.

AU - Sheffield, Val C.

AU - Stone, Edwin M.

N1 - Funding Information: The authors appreciate the enthusiastic participation of the family members and thank Luan Streb, Gretel Mattes, Brian Thompson, and Thomas Businga for their excellent technical assistance. The authors also appreciate Dr Robert Folberg's assistance in preparing and interpreting the light micrographs that appear as Figure 1. The authors greatly appreciate the unpublished STRP data generously shared by Dr James Weber. This work was supported in part by the Glaucoma Foundation, New York, NY; The Carver Charitable Trust; the National Retinitis Pigmentosa Foundation Fighting Blindness; the George Gund Foundation; the Grousbeck Family Foundation; the C.S. O'Brien Center for Macular Diseases; Public Health Service Research grants EY10539 and EY10564; an unrestricted grant from Research to Prevent Blindness, New York, N.Y.; the Canadian RP Research Foundation(EH); and, the Ontario Glaucoma Society (EH). Dr Stone is a Research to Prevent Blindness Dolly Green Scholar.

PY - 1995/3

Y1 - 1995/3

N2 - Posterior polymorphous dystrophy (PPMD) is an autosomal dominant disorder of the cornea that is clinically recognized by the presence of vesicles on the endothelial surface of the cornea. The corneal endothelium is normally a single layer of cells that lose their mitotic potential after development is complete. In PPMD, the endothelium is often multi-layered and has several other characteristics of an epithelium including the presence of desmosomes, tonofilaments, and microvilli. These abnormal cells retain their ability to divide and extend onto the trabecular meshwork to cause glaucoma in up to 40% of cases. A large family with 21 members affected with PPMD was genotyped with short tandem repeat polymorphisms distributed across the autosomal genome. Linkage was established with markers on the long arm of chromosome 20. The highest observed LOD score was 5.54 (θ = 0) with marker D20S45. Analysis of recombination events in four affected individuals revealed that the disease gene lies within a 30cM interval between markers D20S98 and D20S108. / 1995 Oxford University Press.

AB - Posterior polymorphous dystrophy (PPMD) is an autosomal dominant disorder of the cornea that is clinically recognized by the presence of vesicles on the endothelial surface of the cornea. The corneal endothelium is normally a single layer of cells that lose their mitotic potential after development is complete. In PPMD, the endothelium is often multi-layered and has several other characteristics of an epithelium including the presence of desmosomes, tonofilaments, and microvilli. These abnormal cells retain their ability to divide and extend onto the trabecular meshwork to cause glaucoma in up to 40% of cases. A large family with 21 members affected with PPMD was genotyped with short tandem repeat polymorphisms distributed across the autosomal genome. Linkage was established with markers on the long arm of chromosome 20. The highest observed LOD score was 5.54 (θ = 0) with marker D20S45. Analysis of recombination events in four affected individuals revealed that the disease gene lies within a 30cM interval between markers D20S98 and D20S108. / 1995 Oxford University Press.

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DO - 10.1093/hmg/4.3.485

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JO - Human molecular genetics

JF - Human molecular genetics

IS - 3

ER -

Linkage of posterior polymorphous corneal dystrophy to 20q11

Abstract

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