Localisation of the gene for X-linked reticulate pigmentary disorder with systemic manifestations (PDR), previously known as X-linked cutaneous amyloidosis

Am J Med Genet. 1994 Aug 1;52(1):75-8. doi: 10.1002/ajmg.1320520115.


X-linked reticulate pigmentary disorder (PDR), previously reported as X-linked cutaneous amyloidosis (MIM#301220), is characterized by brown pigmentation of the skin which follows the lines of Blaschko in females but appears as reticulate sheets in males. Males may suffer severe gastrointestinal disorders in infancy with failure to thrive and early death. Nowadays symptomatic treatment allows survival and other manifestations may appear such as corneal dystrophy with severe photophobia or chronic respiratory disease. Amyloid deposition in the skin may be no more than an age-dependent secondary manifestation. The PDR gene was localised by linkage analysis to Xp21-p22. The background genetic map is Xpter-DXS996-22.5-DXS207-3.3-DXS999-3.3-DXS36 5-14.2-DXS989-4.1-3'DMD-3.5- DXS997-1.0-STR44-9.3-DYSI-2.3-DXS1068-11.0-DX S228 with distances between markers given in cM. Recombinants detected with DXS999 distally and DXS228 proximally, define the limits to the localisation. Linkage was found with several markers within this interval. Peak lod scores of 3.21 at theta = 0.0 were obtained between PDR and DXS989 and between PDR and 5'DYSI within the dystrophin locus.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyloidosis / genetics*
  • DNA, Satellite
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Lod Score
  • Male
  • Pedigree
  • Pigmentation Disorders / genetics*
  • Polymorphism, Genetic
  • Skin Diseases / genetics
  • X Chromosome*


  • DNA, Satellite
  • Genetic Markers