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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Published inHuman genome variation Vol. 1; no. 1; p. 14022
Main Authors Okamoto, Nana, Naruto, Takuya, Kohmoto, Tomohiro, Komori, Takahide, Imoto, Issei
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group UK 13.11.2014
Springer Nature B.V
Nature Publishing Group
Subjects
631/208/1516/1510
631/208/2489/1512
631/208/514/2256
692/308/2056
Biomedical and Life Sciences
Biomedicine
Data Report
Gene Expression
Gene Function
Gene Therapy
Human Genetics
Molecular Medicine
Online AccessGet full text
ISSN2054-345X
2054-345X
DOI10.1038/hgv.2014.22

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Summary: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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These authors contributed equally to this work.
ISSN:2054-345X
2054-345X
DOI:10.1038/hgv.2014.22