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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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
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author Nakase, Yoji
Hamada, Atsuko
Kitamura, Naoya
Hata, Tsuyoshi
Toratani, Shigeaki
Yamamoto, Tetsuya
Okamoto, Tetsuji
author_facet Nakase, Yoji
Hamada, Atsuko
Kitamura, Naoya
Hata, Tsuyoshi
Toratani, Shigeaki
Yamamoto, Tetsuya
Okamoto, Tetsuji
author_sort Nakase, Yoji
collection PubMed
description 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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spelling pubmed-76744312020-11-20 Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome Nakase, Yoji Hamada, Atsuko Kitamura, Naoya Hata, Tsuyoshi Toratani, Shigeaki Yamamoto, Tetsuya Okamoto, Tetsuji Hum Genome Var Data Report 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. Nature Publishing Group UK 2020-11-18 /pmc/articles/PMC7674431/ /pubmed/33298892 http://dx.doi.org/10.1038/s41439-020-00126-6 Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Nakase, Yoji
Hamada, Atsuko
Kitamura, Naoya
Hata, Tsuyoshi
Toratani, Shigeaki
Yamamoto, Tetsuya
Okamoto, Tetsuji
Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome
title Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome
title_full Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome
title_fullStr Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome
title_full_unstemmed Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome
title_short Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome
title_sort novel ptch1 mutations in japanese familial nevoid basal cell carcinoma syndrome
topic Data Report
url 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
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