Localization of the gene for Darier disease to a 5-cM interval on chromosome 12q

S. Ikeda, P. Wakem, A. Haake, N. Ewing, R. Polakowska, Y. Sarret, A. Trattner, M. David, M. Shohat, D. W. Schroeder, E. H. Epstein*, L. A. Goldsmith

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Darier disease is an autosomal dominant abnormality of epidermal differentiation characterized clinically by the presence of hyperkeratotic papules on the skin and histologically by the loss of cell cohesion and by disorderly keratinization. Two groups recently found evidence that the gene whose mutations underlie this disease is located at chromosome 12q23-q24.1, a site on chromosome 12 that clearly is distal to the type II keratin gene cluster. We report here evidence for sublocalization to a 5-cM region of that site in an additional ten families of European and Middle Eastern ancestry with a combined lod score in excess of 20.

Original languageEnglish
Pages (from-to)478-481
Number of pages4
JournalJournal of Investigative Dermatology
Issue number4
StatePublished - Oct 1994
Externally publishedYes


  • inherited / linkage analysis / keratin / cell adhesion
  • skin disease


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