, Volume 100, Issue 5-6, pp 497-502

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

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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.

Received: 10 February 1997 / Accepted: 13 May 1997