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© 1993 Oxford University Press

RESEARCH-ARTICLE

The gene for Darier's disease maps to chromosome 12q23–q24.1

Nick Craddock1, Elisabeth Dawson3, susan Burge4, Liz Parfitt2, Becky mant2, Queta Roberts2, Jo Daniels2, Mike Gill2, Peter McGuffin1, John Powell3 and Mlke Owen1,2,*

1Department of Psychological Medicine Heath Park, Cardiff CF4 4XN 2Department of Medical Genetics, University of Wales College of Medicine Heath Park, Cardiff CF4 4XN 3Department of Neuroscience and Genetics Section, Institute of Psychiatry, De Crespigny Park Denmark Hill, London SE5 8AF 4Department of Dermatology, Stoke Mandeville Hospital Mandeville Road, Aylesbury HP21 8AL, UK

*To whom correspondence should be addressed

Received August 16, 1993; Revised September 17, 1993; Accepted September 17, 1993

Darler's disease is a rare autosomal dominant skin disorder in which there is abnormal adhesion between keratlnocytes. It appears to be associated with an Increased prevalence of neuropsychiatrlc disorders including mental retardation and epilepsy. In addition we have previously reported a family in which major affective disorder cosegregates with Darier's disease. In the present study we have localized the gene for Darier's disease to chromosome 12q23–q24.1 by linkage analysis in five British pedigrees. We obtained a maximum two point lod score of 4.29 with marker D12S84 at zero recombination fraction. All five families showed evidence of linkage between the disease gene and markers In this region. Subsequent identification of the Darier's disease gene will provide Insights into normal mechanisms of cell adhesion and may be of importance in the genetic Investigation of neuropsychiatric disorders as well as elucidating the pathogenesls of Darier's disease itself.


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