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© 1995 Oxford University Press

OTHER

Blepharophimosis syndrome is linked to chromosome 3q

Kent W. Small*, Mike Stalvey1, Lucretia Fisher1, Lynne Mullen1, Cynthia Dickel1, Kevin Beadles2, Robert Reimer2, Alan Lessner2, Karen Lewis3 and Margaret Pericak-Vance3

The Jules Stein Eye Institute, University of California Los Angeles 1Center for Mammalian Genetics Durham, NC, USA 2Department of Ophthalmology, University of Florida at Gainesville, FL Durham, NC, USA 3Duke University Medical Center, Division of Neurology Durham, NC, USA

*To whom correspondence should be addressed

Received November 3, 1994; Revised December 12, 1994; Accepted December 12, 1994

Blepharophimosis syndrome (BPES, blepharophimosis eyelid syndrome) is a distinctive congenital eyelid malformation which can occur sporadically or be inherited in an autosomal dominant fashion. Previous reports have described associated cytogenetic abnormalities on chromosome 3q. We have ascertained and sampled two BPES families with apparent autosomal dominant inheritance and have tested for linkage with 17 polymorphic markers on 3q. Multipoint analysis generated a maximum LOD score of 3.23 using the markers RHO, ACPP and D3S1238. No evidence of genetic heterogeneity was observed. These studies provide the first non—cytogenetic evidence that a defective gene responsible for BPES is located on 3q22.


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