Basal Cell Nevus Syndrome caused by a new splice site mutation in PTCH1

Abstract

Basal cell nevus syndrome is a rare inherited autosomal dominant syndrome characterized by developmental defects and tumor predisposition. There are more than 400 reported PTCH1 mutations, including frameshift, nonsense, missense, deletions, duplications, and splicing mutations. We report a 68-year-old Thai female presenting with multiple basal cell carcinoma scattered on the face and upper back and palmoplantar pits. Molecular diagnosis showed a novel heterozygous mutation in the splice site region c.746+1_746+4delGTAA, localized within the splice donor after exon 5 of PTCH1. Although the clinical manifestations are characteristic, this report adds another splice site mutation to the genotypic variation of BCNS patients and also highlights the importance of a multidisciplinary approach in the management of BCNS patients.