Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome.

ABSTRACT: Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is inherited in an autosomal dominant manner and is characterized by a combination of developmental abnormalities and a predisposition to tumor formation. Hedgehog receptor Patched 1 (PTCH1) has been identified as the mutated gene in NBCCS. We identified the PTCH1_c.3298_3299insAAG_p.1099_1100insE mutation in the transmembrane region, which comprises a sterol transporter whose abnormal function is reportedly related to pathogenicity.

SUBMITTER: Nakase Y 

PROVIDER: S-EPMC7674431 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature