A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1

Am J Hum Genet. 1997 May;60(5):1150-7.


Hereditary isolated congenital ptosis is an autosomal dominant disorder with incomplete penetrance characterized by a variable degree of unilateral or bilateral drooping of the upper eyelids. We report linkage of this disorder in a large family to markers on chromosome 1p. In our sample of 37 meioses, nine informative markers did not recombine with the disease. D1S2677 gave a maximum two-point LOD score of 8.8 on the assumption of 90% penetrance (theta = 0). D1S447/2733 and D1S1616 flank the disease locus, with two-point LOD scores of 5.6/6.6 (theta = .04) and 4.9 (theta = .05), respectively, defining a region of 2.8 cM. FISH of YACs containing flanking recombinant markers localizes the gene to chromosome 1p32-p34.1. These data establish a map location for an isolated congenital ptosis gene and demonstrate that this disorder is genetically distinct from other extraocular muscle-specific disorders such as congenital fibrosis of the extraocular muscles and blepharophimosis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Blepharoptosis / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 1*
  • Female
  • Genes, Dominant*
  • Genetic Markers
  • Genotype
  • Humans
  • In Situ Hybridization, Fluorescence
  • Lod Score
  • Male
  • Pedigree
  • Recombination, Genetic


  • Genetic Markers