A novel germline mutation in a patient with nevoid basal cell carcinoma syndrome showing cystic lesion in the lung

Nevoid basal cell carcinoma syndrome (NBCCS) manifests multiple defects involving the skin, endocrine and nervous systems, eyes and bones. Mutations in the patched homologue 1 (PTCH1) gene are the underlying causes of NBCCS, leading to aberrant cell proliferation through constitutive activation of t...

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Autores principales: Miyata, Ryo, Kurosawa, Manabu, Sato, Masaaki, Kono, Tomoya, Takubo, Yasutaka, Okai, Shinsaku, Yamada, Keisuke, Shinkura, Reiko, Date, Hiroshi, Matsuda, Fumihiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785575/
https://www.ncbi.nlm.nih.gov/pubmed/27081528
http://dx.doi.org/10.1038/hgv.2015.14
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author Miyata, Ryo
Kurosawa, Manabu
Sato, Masaaki
Kono, Tomoya
Takubo, Yasutaka
Okai, Shinsaku
Yamada, Keisuke
Shinkura, Reiko
Date, Hiroshi
Matsuda, Fumihiko
author_facet Miyata, Ryo
Kurosawa, Manabu
Sato, Masaaki
Kono, Tomoya
Takubo, Yasutaka
Okai, Shinsaku
Yamada, Keisuke
Shinkura, Reiko
Date, Hiroshi
Matsuda, Fumihiko
author_sort Miyata, Ryo
collection PubMed
description Nevoid basal cell carcinoma syndrome (NBCCS) manifests multiple defects involving the skin, endocrine and nervous systems, eyes and bones. Mutations in the patched homologue 1 (PTCH1) gene are the underlying causes of NBCCS, leading to aberrant cell proliferation through constitutive activation of the hedgehog signaling pathway. We identified a novel frameshift mutation (c.1207dupT) of PTCH1 in a NBCCS patient, which might explain multiple cystic lesions and neoplastic growth in the patient.
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spelling pubmed-47855752016-04-14 A novel germline mutation in a patient with nevoid basal cell carcinoma syndrome showing cystic lesion in the lung Miyata, Ryo Kurosawa, Manabu Sato, Masaaki Kono, Tomoya Takubo, Yasutaka Okai, Shinsaku Yamada, Keisuke Shinkura, Reiko Date, Hiroshi Matsuda, Fumihiko Hum Genome Var Data Report Nevoid basal cell carcinoma syndrome (NBCCS) manifests multiple defects involving the skin, endocrine and nervous systems, eyes and bones. Mutations in the patched homologue 1 (PTCH1) gene are the underlying causes of NBCCS, leading to aberrant cell proliferation through constitutive activation of the hedgehog signaling pathway. We identified a novel frameshift mutation (c.1207dupT) of PTCH1 in a NBCCS patient, which might explain multiple cystic lesions and neoplastic growth in the patient. Nature Publishing Group 2015-06-11 /pmc/articles/PMC4785575/ /pubmed/27081528 http://dx.doi.org/10.1038/hgv.2015.14 Text en Copyright © 2015 The Japan Society of Human Genetics http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
spellingShingle Data Report
Miyata, Ryo
Kurosawa, Manabu
Sato, Masaaki
Kono, Tomoya
Takubo, Yasutaka
Okai, Shinsaku
Yamada, Keisuke
Shinkura, Reiko
Date, Hiroshi
Matsuda, Fumihiko
A novel germline mutation in a patient with nevoid basal cell carcinoma syndrome showing cystic lesion in the lung
title A novel germline mutation in a patient with nevoid basal cell carcinoma syndrome showing cystic lesion in the lung
title_full A novel germline mutation in a patient with nevoid basal cell carcinoma syndrome showing cystic lesion in the lung
title_fullStr A novel germline mutation in a patient with nevoid basal cell carcinoma syndrome showing cystic lesion in the lung
title_full_unstemmed A novel germline mutation in a patient with nevoid basal cell carcinoma syndrome showing cystic lesion in the lung
title_short A novel germline mutation in a patient with nevoid basal cell carcinoma syndrome showing cystic lesion in the lung
title_sort novel germline mutation in a patient with nevoid basal cell carcinoma syndrome showing cystic lesion in the lung
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785575/
https://www.ncbi.nlm.nih.gov/pubmed/27081528
http://dx.doi.org/10.1038/hgv.2015.14
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