Blepharophimosis syndrome is linked to chromosome 3q

Kent W. Small, Mike Stalvey, Lucretia Fisher, Lynne Mullen, Cynthia Dickel, Kevin Beadles, Robert Reimer, Alan Lessner, Karen Lewis, Margaret Pericak-vance

Research output: Contribution to journalArticlepeer-review

51 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)443-448
Number of pages6
JournalHuman molecular genetics
Issue number3
StatePublished - Mar 1995
Externally publishedYes

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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