A novel PTCH1 mutation in a patient with Gorlin syndrome

Gorlin syndrome is an autosomal dominant disorder characterized by a wide range of developmental abnormalities and a predisposition to various tumors, and it is linked to the alteration of several causative genes, including PTCH1. We performed targeted resequencing using a next-generation sequencer...

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Autores principales: Okamoto, Nana, Naruto, Takuya, Kohmoto, Tomohiro, Komori, Takahide, Imoto, Issei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785514/
https://www.ncbi.nlm.nih.gov/pubmed/27081512
http://dx.doi.org/10.1038/hgv.2014.22
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author Okamoto, Nana
Naruto, Takuya
Kohmoto, Tomohiro
Komori, Takahide
Imoto, Issei
author_facet Okamoto, Nana
Naruto, Takuya
Kohmoto, Tomohiro
Komori, Takahide
Imoto, Issei
author_sort Okamoto, Nana
collection PubMed
description Gorlin syndrome is an autosomal dominant disorder characterized by a wide range of developmental abnormalities and a predisposition to various tumors, and it is linked to the alteration of several causative genes, including PTCH1. We performed targeted resequencing using a next-generation sequencer to analyze genes associated with known clinical phenotypes in an 11-year-old male with sporadic jaw keratocysts. A novel duplication mutation (c.426dup) in PTCH1, resulting in a truncated protein, was identified.
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spelling pubmed-47855142016-04-14 A novel PTCH1 mutation in a patient with Gorlin syndrome Okamoto, Nana Naruto, Takuya Kohmoto, Tomohiro Komori, Takahide Imoto, Issei Hum Genome Var Data Report Gorlin syndrome is an autosomal dominant disorder characterized by a wide range of developmental abnormalities and a predisposition to various tumors, and it is linked to the alteration of several causative genes, including PTCH1. We performed targeted resequencing using a next-generation sequencer to analyze genes associated with known clinical phenotypes in an 11-year-old male with sporadic jaw keratocysts. A novel duplication mutation (c.426dup) in PTCH1, resulting in a truncated protein, was identified. Nature Publishing Group 2014-11-13 /pmc/articles/PMC4785514/ /pubmed/27081512 http://dx.doi.org/10.1038/hgv.2014.22 Text en Copyright © 2014 The Japan Society of Human Genetics http://creativecommons.org/licenses/by-nc-sa/3.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported 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-nc-sa/3.0/
spellingShingle Data Report
Okamoto, Nana
Naruto, Takuya
Kohmoto, Tomohiro
Komori, Takahide
Imoto, Issei
A novel PTCH1 mutation in a patient with Gorlin syndrome
title A novel PTCH1 mutation in a patient with Gorlin syndrome
title_full A novel PTCH1 mutation in a patient with Gorlin syndrome
title_fullStr A novel PTCH1 mutation in a patient with Gorlin syndrome
title_full_unstemmed A novel PTCH1 mutation in a patient with Gorlin syndrome
title_short A novel PTCH1 mutation in a patient with Gorlin syndrome
title_sort novel ptch1 mutation in a patient with gorlin syndrome
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785514/
https://www.ncbi.nlm.nih.gov/pubmed/27081512
http://dx.doi.org/10.1038/hgv.2014.22
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