Journal of the American Academy of Dermatology
Volume 64, Issue 4 , Pages e45-e50 , April 2011

Marie Unna hereditary hypotrichosis: Identification of a U2HR mutation in the family from the original 1925 report

  • Silke Redler, MD

      Affiliations

    • Institute of Human Genetics, University of Bonn, Bonn, Germany
    • Corresponding Author InformationReprint requests: Silke Redler, MD, Institute of Human Genetics, University of Bonn, Sigmund-Freud-Str. 25, D-53127 Bonn, Germany.
    • ,
  • Roland Kruse, MD

      Affiliations

    • Dermatological Practice, Paderborn, Germany
    • ,
  • Sibylle Eigelshoven, MD

      Affiliations

    • Department of Dermatology, University of Düsseldorf, Düsseldorf, Germany
    • ,
  • Sandra Hanneken, MD

      Affiliations

    • Department of Dermatology, University of Düsseldorf, Düsseldorf, Germany
    • ,
  • Melanie Refke

      Affiliations

    • Institute of Human Genetics, University of Bonn, Bonn, Germany
    • ,
  • Yaran Wen, MD

      Affiliations

    • McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
    • ,
  • Xue Zhang, MD, PhD

      Affiliations

    • McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
    • ,
  • Sven Cichon, PhD

      Affiliations

    • Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany
    • ,
  • Regina C. Betz, MD

      Affiliations

    • Institute of Human Genetics, University of Bonn, Bonn, Germany
    • ,
  • Markus M. Nöthen, MD

      Affiliations

    • Institute of Human Genetics, University of Bonn, Bonn, Germany
    • Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany

,Accepted 9 June 2010.

References 

  1. Unna M. Über hypotrichosis congenita hereditaria. Dermatol Wochenschr. 1925;8:1167–1178
  2. Ludwig E. Hypotrichosis congenital hereditaria type M Unna. [in undetermined language] Arch Dermatol Syph. 1953;196:261–278
  3. Borelli S. Hypotrichosis congenita hereditaria Marie Unna. Hautarzt. 1954;5:18–21
  4. Chlebarov S. Hereditary congenital hypotrichosis, Marie Unna type. [in German] Z Hautkr. 1985;60:583–596
  5. Spiegl B, Hundeiker M. Congenital hereditary hypotrichosis: generalized autosomal dominant hypotrichosis with pili torti (hypotrichosis congenita hereditaria Marie Unna). [in German] Fortschr Med. 1979;97:2018–2022
  6. Cichon S, Kruse R, Hillmer AM, Kukuk G, Anker M, Altland K, et al. A distinct gene close to the hairless locus on chromosome 8p underlies hereditary Marie Unna type hypotrichosis in a German family. Br J Dermatol. 2000;143:811–814
  7. Wirth G, Bindewald I, Küster W, Goerz G. Hypotrichosis congenita hereditaria Maria Unna. [in German] Hautarzt. 1985;36:577–580
  8. Mende B, Kreysel HW. Hypotrichosis congenita hereditaria Marie Unna with Ehlers-Danlos syndrome and atopy. [in German] Hautarzt. 1987;38:532–535
  9. Niiyama S, Freyschmidt-Paul P, Happle R, Hoffmann R. Guess what! Hypotrichosis congenita of Marie Unna. [comment] Eur J Dermatol. 2001;11:379–380
  10. Lefevre P, Rochat A, Bodemer C, Vabres P, Barrandon Y, de Prost Y, et al. Linkage of Marie-Unna hypotrichosis locus to chromosome 8p21 and exclusion of 10 genes including the hairless gene by mutation analysis. Eur J Hum Genet. 2000;8:273–279
  11. Sreekumar GP, Roberts JL, Wong CQ, Stenn KS, Parimoo S. Marie Unna hereditary hypotrichosis gene maps to human chromosome 8p21 near hairless. J Invest Dermatol. 2000;114:595–597
  12. van Steensel M, Smith FJ, Steijlen PM, Kluijt I, Stevens HP, Messenger A, et al. The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing. Am J Hum Genet. 1999;65:413–419
  13. Kim HS, Kim SC, Lee WS. Marie Unna hypotrichosis in an Asian family. J Dermatol. 2001;28:149–152
  14. Wong SN, Giam YC, Lee YS. Marie Unna hypotrichosis in a Chinese family. Pediatr Dermatol. 2002;19:250–255
  15. He PP, Zhang XJ, Yang Q, Li M, Liang YH, Yang S, et al. Refinement of a locus for Marie Unna hereditary hypotrichosis to a 1.1-cM interval at 8p21.3. Br J Dermatol. 2004;150:837–842
  16. Yan KL, He PP, Yang S, Li M, Yang Q, Ren YQ, et al. Marie Unna hereditary hypotrichosis: report of a Chinese family and evidence for genetic heterogeneity. Clin Exp Dermatol. 2004;29:460–463
  17. Wen Y, Liu Y, Xu Y, Zhao Y, Hua R, Wang K, et al. Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. Nat Genet. 2009;41:228–233
  18. Düzenli S, Redler S, Müller M, Polat M, Dogruer D, Pasternack SM, et al. Identification of a U2HR gene mutation in Turkish families with Marie Unna hereditary hypotrichosis. Clin Exp Dermatol. 2009;34:e953–e956
  19. Cichon S, Anker M, Vogt IR, Rohleder H, Putzstück M, Hillmer A, et al. Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia. Hum Mol Genet. 1998;7:1671–1679
  20. Ahmad W, Faiyaz ul Haque M, Brancolini V, Tsou HC, ul Haque S, Lam H, et al. Alopecia universalis associated with a mutation in the human hairless gene. Science. 1998;279:720–724
  21. Kruse R, Cichon S, Anker M, Hillmer AM, Barros-Nunez P, Cantu JM, et al. Novel hairless mutations in two kindreds with autosomal recessive papular atrichia. J Invest Dermatol. 1999;113:954–959
  22. Cai LQ, Wang PG, Gao M, Lu WS, Xu SX, Fang QY, et al. A novel U2HR non-synonymous mutation in a Chinese patient with Marie Unna hereditary hypotrichosis. J Dermatol Sci. 2009;55:125–127

 Dr Redler is a recipient of a BONFOR fellowship from the medical faculty of the University of Bonn. Dr Nöthen is an Alfried Krupp von Bohlen und Halbach Professor of Genetic Medicine. Dr Betz is a recipient of an Emmy-Noether fellowship.

 Conflicts of interest: None declared.

PII: S0190-9622(10)00693-6

doi: 10.1016/j.jaad.2010.06.013

Journal of the American Academy of Dermatology
Volume 64, Issue 4 , Pages e45-e50 , April 2011

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