title: 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.
authors.affiliation: Department of Oral and Maxillofacial Surgery, Kobe University Graduate School of Medicine , Kobe, Japan.
authors.forename: Nana
authors.initials: N
authors.lastname: Okamoto
authors.affiliation: Department of Stress Science, Institute of Health Biosciences, The University of Tokushima Graduate School , Tokushima, Japan.
authors.forename: Takuya
authors.initials: T
authors.lastname: Naruto
authors.affiliation: Student Lab, Faculty of Medicine, The University of Tokushima , Tokushima, Japan.
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Kohmoto
authors.affiliation: Department of Oral and Maxillofacial Surgery, Kobe University Graduate School of Medicine , Kobe, Japan.
authors.forename: Takahide
authors.initials: T
authors.lastname: Komori
authors.affiliation: Department of Human Genetics, Institute of Health Biosciences, The University of Tokushima Graduate School , Tokushima, Japan.
authors.forename: Issei
authors.initials: I
authors.lastname: Imoto