HR
MIM.602302 8p21.2
Pathology
germline mutations in
- alopecia universalis congenita (MIM.203655)
- atrichia with papular lesions (MIM.209500)
References
Ahmad, W.; Haque, M. F.; Brancolini, V.; Tsou, H. C.; Haque, S.; Lam, H.; Aita, V. M.; Owen, J.; deBlaquiere, M.; Frank, J.; Cserhalmi-Friedman, P. B.; Leask, A.; McGrath, J. A.; Peacocke, M.; Ahmad, M.; Ott, J.; Christiano, A. M. : Alopecia universalis associated with a mutation in the human hairless gene. Science 279: 720-724, 1998. PubMed ID : #9445480#
Ahmad, W.; Nomura, K.; McGrath, J. A.; Hashimoto, I.; Christiano, A. M. : A homozygous nonsense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia. (Letter) J. Invest. Derm. 113: 281-283, 1999. PubMed ID : #10469319#
Ahmad, W.; Zlotogorski, A.; Panteleyev, A. A.; Lam, H.; Ahmad, M.; ul Haque, M. F.; Abdallah, H. M.; Dragan, L.; Christiano, A. M. : Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family. Genomics 56: 141-148, 1999. PubMed ID : #10051399#
Henn, W.; Zlotogorski, A.; Lam, H.; Martinez-Mir, A.; Zaun, H.; Christiano, A. M. : Atrichia with papular lesions resulting from compound heterozygous mutations in the hairless gene: a lesson for differential diagnosis of alopecia universalis. J. Am. Acad. Derm. 47: 519-523, 2002. PubMed ID : #12271294#
Hillmer, A. M.; Kruse, R.; Macciardi, F.; Heyn, U.; Betz, R. C.; Ruzicka, T.; Propping, P.; Nothen, M. M.; Cichon, S. : The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family-based association approach. Brit. J. Derm. 146: 601-608, 2002. PubMed ID : #11966690#
Klein, I.; Bergman, R.; Indelman, M.; Sprecher, E. : A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia. J. Invest. Derm. 119: 920-922, 2002. PubMed ID : #12406339#
Miller, J.; Djabali, K.; Chen, T.; Liu, Y.; Ioffreda, M.; Lyle, S.; Christiano, A. M.; Holick, M.; Cotsarelis, G. : Atrichia caused by mutations in the vitamin D receptor gene is a phenocopy of generalized atrichia caused by mutations in the hairless gene. J. Invest. Derm. 117: 612-617, 2001. PubMed ID : #11564167#