A locus for posterior polymorphous corneal dystrophy ( PPCD3 ) maps to chromosome 10
dc.contributor.author | Shimizu, Satoko | en_US |
dc.contributor.author | Krafchak, Charles M. | en_US |
dc.contributor.author | Fuse, Nobuo | en_US |
dc.contributor.author | Epstein, Michael P. | en_US |
dc.contributor.author | Schteingart, Miriam T. | en_US |
dc.contributor.author | Sugar, Alan | en_US |
dc.contributor.author | Eibschitz-Tsimhoni, Maya | en_US |
dc.contributor.author | Downs, Catherine A. | en_US |
dc.contributor.author | Rozsa, Frank | en_US |
dc.contributor.author | Trager, Edward H. | en_US |
dc.contributor.author | Reed, David M. | en_US |
dc.contributor.author | Boehnke, Michael | en_US |
dc.contributor.author | Moroi, Sayoko E. | en_US |
dc.contributor.author | Richards, Julia E. | en_US |
dc.date.accessioned | 2006-04-19T13:45:05Z | |
dc.date.available | 2006-04-19T13:45:05Z | |
dc.date.issued | 2004-11-01 | en_US |
dc.identifier.citation | Shimizu, Satoko; Krafchak, Charles; Fuse, Nobuo; Epstein, Michael P.; Schteingart, Miriam T.; Sugar, Alan; Eibschitz-Tsimhoni, Maya; Downs, Catherine A.; Rozsa, Frank; Trager, Edward H.; Reed, David M.; Boehnke, Michael; Moroi, Sayoko E.; Richards, Julia E. (2004)."A locus for posterior polymorphous corneal dystrophy ( PPCD3 ) maps to chromosome 10." American Journal of Medical Genetics 130A(4): 372-377. <http://hdl.handle.net/2027.42/34672> | en_US |
dc.identifier.issn | 0148-7299 | en_US |
dc.identifier.issn | 1096-8628 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/34672 | |
dc.description.abstract | Posterior polymorphous corneal dystrophy (PPCD) is an autosomal dominant disorder characterized by corneal endothelial abnormalities, which can lead to blindness due to loss of corneal transparency and sometimes glaucoma. We mapped a new locus responsible for PPCD in a family in which we excluded the previously reported PPCD locus on 20q11, and the region containing COL8A2 on chromosome 1. Results of a 317-marker genome scan provided significant evidence of linkage of PPCD to markers on chromosome 10, with single-point LOD scores of 2.63, 1.63, and 3.19 for markers D10S208 (at $hat theta = 0.03$ ), D10S1780 (at $hat theta = 0.00$ ), and D10S578 (at $hat theta = 0.06$ ). A maximum multi-point LOD score of 4.35 was found at marker D10S1780. Affected family members shared a haplotype in an 8.55 cM critical interval that was bounded by markers D10S213 and D10S578. Our finding of another PPCD locus, PPCD3 , on chromosome 10 indicates that PPCD is genetically heterogeneous. Guttae, a common corneal finding sometimes observed along with PPCD, were found among both affected and unaffected members of the proband's sib ship, but were absent in the younger generations of the family. Evaluation of phenotypic differences between family members sharing the same affected haplotype raises questions about whether differences in disease severity, including differences in response to surgical interventions, could be due to genetic background or other factors independent of the PPCD3 locus. © 2004 Wiley-Liss, Inc. | en_US |
dc.format.extent | 111139 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.subject.other | Life and Medical Sciences | en_US |
dc.subject.other | Genetics | en_US |
dc.title | A locus for posterior polymorphous corneal dystrophy ( PPCD3 ) maps to chromosome 10 | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Ophthalmology & Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan ; Currently at Department of Ophthalmology, Teikyo University, Tokyo, Japan | en_US |
dc.contributor.affiliationum | Department of Ophthalmology & Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan ; Department of Epidemiology, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Ophthalmology & Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan ; Currently at Department of Ophthalmology, Tohoku University, Sendai, Japan | en_US |
dc.contributor.affiliationum | Department of Biostatistics, University of Michigan, Ann Arbor, Michigan ; Department of Human Genetics, Emory University, Atlanta, Georgia | en_US |
dc.contributor.affiliationum | Department of Ophthalmology & Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Ophthalmology & Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Ophthalmology & Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Ophthalmology & Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Ophthalmology & Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Ophthalmology & Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Biostatistics, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Ophthalmology & Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Ophthalmology & Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan ; Department of Epidemiology, University of Michigan, Ann Arbor, Michigan ; Department of Ophthalmology & Visual Sciences, University of Michigan, 1000 Wall Street, Ann Arbor, MI 48105. | en_US |
dc.contributor.affiliationother | Andersen Eye Center, Saginaw, Michigan | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/34672/1/30267_ftp.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1002/ajmg.a.30267 | en_US |
dc.identifier.source | American Journal of Medical Genetics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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