Assuntos
Síndrome do Nevo Basocelular , Neoplasias Cerebelares , Meduloblastoma , Síndrome do Nevo Basocelular/epidemiologia , Síndrome do Nevo Basocelular/genética , Neoplasias Cerebelares/epidemiologia , Neoplasias Cerebelares/genética , Humanos , Meduloblastoma/epidemiologia , Meduloblastoma/genética , Mutação , Receptor Patched-1 , PrevalênciaRESUMO
BACKGROUND: Basal cell nevus syndrome (BCNS) is an autosomal dominant disorder characterized by multiple basal cell carcinomas (BCCs), maxillary keratocysts, and cerebral calcifications. BCNS most commonly is caused by a germline mutation in the patched-1 (PTCH1) gene. PTCH1 mutations are also described in patients with holoprosencephaly. METHODS: We have established a locus-specific database for the PTCH1 gene using the Leiden Open Variation Database (LOVD). We included 117 new PTCH1 variations, in addition to 331 previously published unique PTCH1 mutations. These new mutations were found in 141 patients who had a positive PTCH1 mutation analysis in either the VU University Medical Centre (VUMC) or Maastricht University Medical Centre (MUMC) between 1995 and 2015. RESULTS: The database contains 331 previously published unique PTCH1 mutations and 117 new PTCH1 variations. CONCLUSION: We have established a locus-specific database for the PTCH1 gene using the Leiden Open Variation Database (LOVD). The database provides an open collection for both clinicians and researchers and is accessible online at http://www.lovd.nl/PTCH1.
