A gene for lymphedema-distichiasis maps to 16q24.3

Am J Hum Genet. 1999 Aug;65(2):427-32. doi: 10.1086/302500.


Lymphedema-distichiasis (LD) is a dominantly inherited syndrome with onset of lymphedema at or just after puberty. Most affected individuals have distichiasis-fine hairs arising inappropriately from the eyelid meibomian glands-which is evident from birth. A study of three families with LD has shown linkage to chromosome 16q24.3, and subsequent analysis of the region for recombinant genes places the locus between D16S422 and D16S3074, a distance of approximately 16 cM. Possible candidate genes in this interval include the N-proteinase for type 3 collagen, PCOLN3; the metalloprotease PRSM1; and the cell matrix-adhesion regulator, CMAR.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 16 / genetics*
  • Female
  • Genetic Linkage / genetics
  • Genetic Markers / genetics
  • Humans
  • Lymphedema / diagnosis
  • Lymphedema / genetics*
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Physical Chromosome Mapping*


  • Genetic Markers

Associated data

  • OMIM/153200
  • OMIM/153400