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Human Genetics

, Volume 103, Issue 4, pp 400–404 | Cite as

Congenital atrichia in five Arab Palestinian families resulting from a deletion mutation in the human hairless gene

  • Abraham Zlotogorski
  • Wasim Ahmad
  • A. M. Christiano
Rapid communication

Abstract

Congenital atrichia is a rare autosomal recessive disorder of hair development, characterized by complete loss of hair shortly after birth. Evidence of linkage to chromosome 8p12 has been established, implicating the human homolog of the mouse hairless (hr) gene as a candidate gene. We have previously identified missense mutations in families with congenital atrichia. Here, we report the first deletion mutation (2147del C) in exon 9 of the human hairless gene leading to a frameshift and downstream premature termination codon in five Palestinian families of Arab origin.

Keywords

Codon Candidate Gene Missense Mutation Deletion Mutation Complete Loss 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1998

Authors and Affiliations

  • Abraham Zlotogorski
    • 1
  • Wasim Ahmad
    • 2
  • A. M. Christiano
    • 3
  1. 1.Department of Dermatology, Hadassah University Hospital, Jerusalem, IsraelIL
  2. 2.Department of Dermatology, Columbia University, New York, USAUS
  3. 3.Departments of Dermatology and Genetics & Development, Columbia University, New York, USAUS

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