Copyright © 2000 The American Society of Human Genetics. All rights reserved.
The American Journal of Human Genetics, Volume 66, Issue 6, 1979-1983, 1 June 2000
doi:10.1086/302934
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A Gene for Hypotrichosis Simplex of the Scalp Maps to Chromosome 6p21.3
Regina C. Betz1, 
, 
, Young-Ae Lee3, 4, Anette Bygum6, Flemming Brandrup6, Ana I. Bernal7, Jaime Toribio7, J. Ignacio Alvarez8, Guido M. Kukuk1, Hans Henning W. Ibsen6, Hanne B. Rasmussen6, Thomas F. Wienker2, André Reis3, 5, Peter Propping1, Roland Kruse9, Sven Cichon1 and Markus M. Nöthen1
1 Institutes of Human Genetics, Informatics, and Epidemiology, University of Bonn, Bonn
2 Institutes of Medical Biometry, Informatics, and Epidemiology, University of Bonn, Bonn
3 Gene Mapping Center, Max-Delbrück Centrum, Humboldt-University Berlin, Berlin
4 Department of Pediatrics, Pneumology, and Immunology, Humboldt-University Berlin, Berlin
5 Institute of Human Genetics, Humboldt-University Berlin, Berlin
6 Department of Dermatology, Odense University Hospital, Odense, Denmark
7 Department of Dermatology, University of Santiago de Compostela, Santiago de Compostela, Valladolid, Spain
8 Cruz Roja de Valladolid, Valladolid, Spain
9 Department of Dermatology, University of Düsseldorf, Düsseldorf
Address for correspondence and reprints: Dr. Regina C. Betz, Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, D-53111 Bonn, GermanyAbstract
Hypotrichosis simplex of the scalp (HSS) is an autosomal dominant form of isolated alopecia causing almost complete loss of scalp hair, with onset in childhood. After exclusion of candidate regions previously associated with hair-loss disorders, we performed a genomewide linkage analysis in two Danish families and localized the gene to chromosome 6p21.3. This was confirmed in a Spanish family, with a total LOD score of 11.97 for marker D6S1701 in all families. The combined haplotype data identify a critical interval of 14.9 cM between markers D6S276 and D6S1607. Localization of the locus for HSS to 6p21.3 is a first step toward identification of the gene. The gene will give important insights into the molecular and cellular basis of hair growth on the scalp.
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