Human Genetics

, Volume 100, Issue 5–6, pp 497–502 | Cite as

Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome

  • N. J. Lench
  • Elizabeth A. R. Telford
  • Alec S. High
  • Alexander F. Markham
  • Carol Wicking
  • Brandon J. Wainwright
Original investigation

Abstract

Mutations in the human patched gene have recently been detected in patients with naevoid basal cell carcinoma syndrome. We have characterised a further 5 novel germ line mutations in patients presenting with multiple odontogenic keratocysts. Four mutations cause premature stop codons and one mutation results in an amino-acid substitution towards the carboxyl terminus of the predicted patched protein. No obvious genotype-phenotype correlations could be interpreted, consistent with previous studies.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • N. J. Lench
    • 1
  • Elizabeth A. R. Telford
    • 1
  • Alec S. High
    • 2
  • Alexander F. Markham
    • 1
  • Carol Wicking
    • 3
  • Brandon J. Wainwright
    • 3
  1. 1.Molecular Medicine Unit, Clinical Sciences Building, St. James’s University Hospital, Leeds, LS9 7TF, West Yorkshire, UK Tel.: +44-113-273-7058; Fax: +44-113-244-4475 e-mail: desnl@stjames.leeds.ac.ukGB
  2. 2.Division of Dental Surgery, Leeds Dental Institute, Clarendon Way, Leeds LS2 9LU, West Yorkshire, UKGB
  3. 3.Centre for Molecular and Cellular Biology, University of Queensland, St Lucia 4072, Brisbane, AustraliaAU

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