New mutations and an updated database for the patched‐1 (PTCH1) gene
New mutations and an updated database for the patched‐1 (PTCH1) gene
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United States: John Wiley & Sons, Inc
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Language
English
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Publisher
United States: John Wiley & Sons, Inc
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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.
PTCH1 protein with newly identified mutations....
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Full title
New mutations and an updated database for the patched‐1 (PTCH1) gene
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6014442
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6014442
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ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.380
