Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome

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 mutat...

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Detalles Bibliográficos
Autores principales: Nakase, Yoji, Hamada, Atsuko, Kitamura, Naoya, Hata, Tsuyoshi, Toratani, Shigeaki, Yamamoto, Tetsuya, Okamoto, Tetsuji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7674431/
https://www.ncbi.nlm.nih.gov/pubmed/33298892
http://dx.doi.org/10.1038/s41439-020-00126-6
Descripción
Sumario: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.

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