Human Genetics

, Volume 101, Issue 2, pp 165–169 | Cite as

A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix

  • H. Winter
  • Michael A. Rogers
  • Mathias Gebhardt
  • Uwe Wollina
  • Lionell Boxall
  • David Chitayat
  • Riyana Babul-Hirji
  • Howard P. Stevens
  • Abreham Zlotogorski
  • Jürgen Schweizer
Original investigation

Abstract

Monilethrix is a rare dominant hair disease characterized by beaded or moniliform hair which results from the periodic thinning of the hair shaft and shows a high propensity to excess weathering and fracturing. Several cases of monilethrix have been linked to the type II keratin gene cluster on chromosome 12q13 and causative heterozygous mutations of a highly conserved glutamic acid residue (Glu 410 Lys and Glu 410 Asp) in the helix termination motif of the type II hair keratin hHb6 have recently been identified in monilethrix patients of two unrelated families. In the present study, we have investigated two further unrelated monilethrix families as well as a single case. Affected members of one family and the single patient exhibited the prevalent hHb6 Glu 410 Lys mutation. In the second family, we identified in affected individuals a lysine substitution of the corresponding glutamic acid residue, Glu 403, in the type II hair keratin hHb1, suggesting that this site represents a mutational hotspot in these highly related type II hair keratins. Both hHb1 and hHb6 are largely coexpressed in cortical trichocytes of the hair shaft. This indicates that monilethrix is a disease of the hair cortex.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • H. Winter
    • 1
  • Michael A. Rogers
    • 1
  • Mathias Gebhardt
    • 2
  • Uwe Wollina
    • 2
  • Lionell Boxall
    • 3
  • David Chitayat
    • 4
  • Riyana Babul-Hirji
    • 4
  • Howard P. Stevens
    • 5
  • Abreham Zlotogorski
    • 6
  • Jürgen Schweizer
    • 1
  1. 1.German Cancer Research Center, Research Program 2, Im Neuenheimer Feld 280, D-69120 Heidelberg, Germany Tel.: +496221-423248; Fax: +496221-422995DE
  2. 2.Department of Dermatology, University of Jena, Erfurter Strafle 35, GermanyDE
  3. 3.Department of Dermatology, The Hospital of Sick Children, Toronto, Ontario, Canada M5G 1X8CA
  4. 4.Department of Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8CA
  5. 5.Academic Department of Dermatology, St. Bartholomew’s and the Royal London School of Medicine and Dentistry, 2 Newark Street, London E1 2AT, UKGB
  6. 6.Department of Dermatology, Hadassah University Hospital, Ein Karem, Jerusalem 91120, IsraelIL

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