ArticleHuman genome variation2014
A novel PTCH1 mutation in a patient with Gorlin syndrome.
Article in Human genome variation, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 32 citations in OpenAlex.
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- Whole-exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation data.Molecular genetics & genomic medicine · 2018Article
- Primary microcephaly caused by novel compound heterozygous mutations inHuman genome variation · 2018Article
- Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer.Oncotarget · 2017Article
- A novel truncating mutation of PTCH1 in a Chinese family with Gorlin syndrome.International journal of clinical and experimental pathology · 2017Article
- NovelHuman genome variation · 2017Article
- The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy diagnosed viaHuman genome variation · 2017Article
- Genome-first approach diagnosed Cabezas syndrome via novelHuman genome variation · 2017Article
- A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome.Human genome variation · 2016Article
- A novel missense mutation of COL5A2 in a patient with Ehlers-Danlos syndrome.Human genome variation · 2016Article
- A novel frameshift mutation of CHD7 in a Japanese patient with CHARGE syndrome.Human genome variation · 2016Article
- Detection of 1p36 deletion by clinical exome-first diagnostic approach.Human genome variation · 2016Article
- Exome-first approach identified a novel gloss deletion associated with Lowe syndrome.Human genome variation · 2016Article
- A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome.Human genome variation · 2015Article
- Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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Registered trials
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