Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome.
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.
Lench
N J
NJ
Molecular Medicine Unit, St. James's University Hospital, Leeds, UK. desnl@stjames.leeds.ac.uk
Telford
E A
EA
High
A S
AS
Markham
A F
AF
Wicking
C
C
Wainwright
B J
BJ
D000293:Adolescent; D000328:Adult; D001478:Basal Cell Nevus Syndrome / Q000235:genetics*; D002648:Child; D018388:Codon, Terminator / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D000072079:Patched Receptors; D018807:Polymorphism, Single-Stranded Conformational; D011956:Receptors, Cell Surface
D018388:Codon, Terminator; D008565:Membrane Proteins; D000072079:Patched Receptors; D011956:Receptors, Cell Surface