Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome

Yoji Nakase,Tetsuya Yamamoto,Atsuko Hamada,Tsuyoshi Hata,Shigeaki Toratani,Naoya Kitamura,Tetsuji Okamoto

doi:10.1038/s41439-020-00126-6

Yoji Nakase, Tetsuya Yamamoto + Show 5 more

Open Access

https://doi.org/10.1038/s41439-020-00126-6

Copy DOI

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.

Highlights

Nevoid basal cell carcinoma syndrome (NBCCS), 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
The gene responsible for causing NBCCS is the human homologue of the Drosophila patched gene Patched 1 (PTCH1)[6]
We investigated PTCH1 germline mutations in Japanese familial NBCCS

Summary

Introduction

Nevoid basal cell carcinoma syndrome (NBCCS), 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. The gene responsible for causing NBCCS is the human homologue of the Drosophila patched gene Patched 1 (PTCH1)[6]. We investigated PTCH1 germline mutations in Japanese familial NBCCS.

Results

Conclusion