Linkage of posterior polymorphous corneal dystrophy to 20q11

Elise Héon; William D Mathers; Wallace L M 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

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Linkage of posterior polymorphous corneal dystrophy to 20q11

Journal article

Peer reviewed

Linkage of posterior polymorphous corneal dystrophy to 20q11

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

Human molecular genetics, Vol.4(3), pp.485-488

03/1995

DOI: 10.1093/hmg/4.3.485

PMID: 7795607

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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 (theta = 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.

Glaucoma - etiology

Pedigree

Recombination, Genetic

Humans

Corneal Dystrophies, Hereditary - genetics

Female

Male

Chromosome Mapping

Endothelium, Corneal - pathology

Chromosomes, Human, Pair 20

Genetic Linkage

Details

Title: Subtitle: Linkage of posterior polymorphous corneal dystrophy to 20q11
Creators: Elise Héon - Department of Ophthalmology, University of Iowa College of Medicine, Iowa City 52242, USA
William D Mathers
Wallace L M Alward
Robert W Weisenthal
Sara L. F Sunden
Jill A Fishbaugh
Chris M Taylor
Jay H Krachmer
Val C Sheffield
Edwin M Stone
Resource Type: Journal article
Publication Details: Human molecular genetics, Vol.4(3), pp.485-488
DOI: 10.1093/hmg/4.3.485
PMID: 7795607
NLM abbreviation: Hum Mol Genet
ISSN: 0964-6906
eISSN: 1460-2083
Publisher: England
Grant note: EY10564 / NEI NIH HHS EY10539 / NEI NIH HHS
Language: English
Date published: 03/1995
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983979912402771

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