ArticlePloS one2015
Simultaneous Detection of Both Single Nucleotide Variations and Copy Number Alterations by Next-Generation Sequencing in Gorlin Syndrome.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 21 citations in OpenAlex.
- AMolecular syndromology · 2025Article
- Basal Cell Nevus Syndrome and Sporadic Basal Cell Carcinoma: A Comparative Study of Clinicopathological Features.Acta dermato-venereologica · 2025Article
- Clinical Features and PTCH1 Expression in Gorlin-Goltz Syndrome: A Case Report.Reports (MDPI) · 2025Article
- Hedgehog-Related Mutation Causes Bone Malformations with or without Hereditary Gene Mutations.International journal of molecular sciences · 2023Review
- Gorlin-Goltz Syndrome: A Case Report and Literature Review withArchives of plastic surgery · 2023Article
- Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing.Scientific reports · 2021Article
- Gorlin Syndrome: Recent Advances in Genetic Testing and Molecular and Cellular Biological Research.International journal of molecular sciences · 2020Review
- 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
- Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype.PloS one · 2017Article
- 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 missense mutation of COL5A2 in a patient with Ehlers-Danlos syndrome.Human genome variation · 2016Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gorlin syndrome (GS) is an autosomal dominant disorder that predisposes affected individuals to developmental defects and tumorigenesis, and caused mainly by heterozygous germline PTCH1 mutations. Despite exhaustive analysis, PTCH1 mutations are often unidentifiable in some patients; the failure to detect mutations is presumably because of mutations occurred in other causative genes or outside of analyzed regions of PTCH1, or copy number alterations (CNAs). In this study, we subjected a cohort of GS-affected individuals from six unrelated families to next-generation sequencing (NGS) analysis for the combined screening of causative alterations in Hedgehog signaling pathway-related genes. Specific single nucleotide variations (SNVs) of PTCH1 causing inferred amino acid changes were identified in four families (seven affected individuals), whereas CNAs within or around PTCH1 were found in two families in whom possible causative SNVs were not detected. Through a targeted resequencing of all coding exons, as well as simultaneous evaluation of copy number status using the alignment map files obtained via NGS, we found that GS phenotypes could be explained by PTCH1 mutations or deletions in all affected patients. Because it is advisable to evaluate CNAs of candidate causative genes in point mutation-negative cases, NGS methodology appears to be useful for improving molecular diagnosis through the simultaneous detection of both SNVs and CNAs in the targeted genes/regions.
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