Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome.

ABSTRACT:

Aim

To search for patched homologue 1 (PTCH1) mutations in four families with basal cell nevus syndrome (BCNS).

Methods

Mutation analysis of PTCH1 in unrelated Japanese families affected with BCNS was carried out by direct sequencing.

Results

Six novel PTCH1 mutations, 833G-->A in exon 6, 1415C-->A and 1451G-->T in exon 10, 2798delC in exon 17, 2918-2925dupAGTTCCCT in exon 18 and 3956C-->A in exon 23, were identified.

Conclusions

Among the six PTCH1 mutations, two frameshift mutations (2798delC and 2918-2925dupAGTTCCCT) and one nonsense mutation (833G-->A) are predicted to lead to premature termination of PTCH1 protein translation. Three simultaneous mutations, 1415C-->A (A472D) and 1451G-->T (G484V) in exon 10, and 3956G-->A (R1319H) in exon 23, were found on

SUBMITTER: Matsuzawa N 

PROVIDER: S-EPMC1861741 | biostudies-literature | 2006 Oct

REPOSITORIES: biostudies-literature