Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2018 May;6(3):409-415.
doi: 10.1002/mgg3.380. Epub 2018 Mar 25.

New mutations and an updated database for the patched-1 (PTCH1) gene

Marie G Reinders  1   2 , Antonius F van Hout  1 , Betûl Cosgun  1   2 , Aimée D Paulussen  2   3 , Edward M Leter  3 , Peter M Steijlen  1   2 , Klara Mosterd  1   2 , Michel van Geel  1   2   3 , Johan J Gille  4
Affiliations

New mutations and an updated database for the patched-1 (PTCH1) gene

Marie G Reinders et al. Mol Genet Genomic Med. 2018 May.

Abstract

Background: Basal cell nevus syndrome (BCNS) is an autosomal dominant disorder characterized by multiple basal cell carcinomas (BCCs), maxillary keratocysts, and cerebral calcifications. BCNS most commonly is caused by a germline mutation in the patched-1 (PTCH1) gene. PTCH1 mutations are also described in patients with holoprosencephaly.

Methods: We have established a locus-specific database for the PTCH1 gene using the Leiden Open Variation Database (LOVD). We included 117 new PTCH1 variations, in addition to 331 previously published unique PTCH1 mutations. These new mutations were found in 141 patients who had a positive PTCH1 mutation analysis in either the VU University Medical Centre (VUMC) or Maastricht University Medical Centre (MUMC) between 1995 and 2015.

Results: The database contains 331 previously published unique PTCH1 mutations and 117 new PTCH1 variations.

Conclusion: We have established a locus-specific database for the PTCH1 gene using the Leiden Open Variation Database (LOVD). The database provides an open collection for both clinicians and researchers and is accessible online at http://www.lovd.nl/PTCH1.

Keywords: PTCH1; BCNS; Basal cell nevus syndrome; Gorlin syndrome; mutation database.

PubMed Disclaimer

References

    1. Bonilla, X. , Parmentier, L. , King, B. , Bezrukov, F. , Kaya, G. , Zoete, V. , … Ribaux, P. G. (2016). Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma. Nature Genetics, 48, 398–406. - PubMed
    1. Bree, F. , Shah, M. R. , & Group BC (2011). Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS). American Journal of Medical Genetics. Part A, 155A, 2091–2097. - PubMed
    1. Calzada‐Wack, J. , Kappler, R. , Schnitzbauer, U. , Richter, T. , Nathrath, M. , Rosemann, M. , … Hahn, H. (2002). Unbalanced overexpression of the mutant allele in murine Patched mutants. Carcinogenesis, 23, 727–733. - PubMed
    1. Evans, D. G. , Farndon, P. A. , Burnell, L. D. , Gattamaneni, H. R. , & Birch, J. M. (1991). The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma. British Journal of Cancer, 64, 959–961. - PMC - PubMed
    1. Evans, D. G. , Ladusans, E. J. , Rimmer, S. , Burnell, L. D. , Thakker, N. , & Farndon, P. A. (1993). Complications of the naevoid basal cell carcinoma syndrome: Results of a population based study. Journal of Medical Genetics, 30, 460–464. - PMC - PubMed

LinkOut - more resources