Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome
- Cite this article as:
- Lench, N., Telford, E., High, A. et al. Hum Genet (1997) 100: 497. doi:10.1007/s004390050541
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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.