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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 <jats:italic>COL8A2<\/jats:italic> on chromosome 1. Results of a 317\u2010marker genome scan provided significant evidence of linkage of PPCD to markers on chromosome 10, with single\u2010point LOD scores of 2.63, 1.63, and 3.19 for markers D10S208 (at <jats:styled-content>$\\hat \\theta = 0.03$<jats:inline-graphic xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"graphic\/tex2gif-ueqn-1.gif\" xlink:title=\"equation image\"\/><\/jats:styled-content>), D10S1780 (at <jats:styled-content>$\\hat \\theta = 0.00$<jats:inline-graphic xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"graphic\/tex2gif-ueqn-2.gif\" xlink:title=\"equation image\"\/><\/jats:styled-content>), and D10S578 (at <jats:styled-content>$\\hat \\theta = 0.06$<jats:inline-graphic xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"graphic\/tex2gif-ueqn-3.gif\" xlink:title=\"equation image\"\/><\/jats:styled-content>). A maximum multi\u2010point 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, <jats:italic>PPCD3<\/jats:italic>, 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 <jats:italic>PPCD3<\/jats:italic> locus. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30267","type":"journal-article","created":{"date-parts":[[2004,9,21]],"date-time":"2004-09-21T23:09:03Z","timestamp":1095808143000},"page":"372-377","source":"Crossref","is-referenced-by-count":24,"title":["A locus for posterior polymorphous corneal dystrophy (<i>PPCD3<\/i>) maps to chromosome 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