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A novel PTCH1 mutation in a patient with Gorlin syndrome.

ABSTRACT: 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.

SUBMITTER: Okamoto N 

PROVIDER: S-EPMC4785514 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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A novel PTCH1 mutation in a patient with Gorlin syndrome.

Okamoto Nana N   Naruto Takuya T   Kohmoto Tomohiro T   Komori Takahide T   Imoto Issei I  

Human genome variation 20141113

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  ...[more]

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