13/08/1402
A novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report
Basal cell nevus syndrome (BCNS), or Gorlin syndrome, is a rare
autosomal dominant disorder caused by mutations in the tumor suppressor
gene PTCH1 with complete penetrance and variable expressivity
characterized by a broad spectrum of developmental anomalies and a
predisposition to neoplasms. Herein, we report a novel de novo splice
site mutation in the PTCH1 gene related to mild developmental delay and
autistic traits in a 4-year-old male patient.