New Mutations and an Updated Database for the Patched-1 (PTCH1) Gene

Overview

Journal Mol Genet Genomic Med

Specialty Genetics

Date 2018 Mar 26

PMID 29575684

Citations 17

Authors

Marie G Reinders

Antonius F van Hout

Betul Cosgun

Aimee D Paulussen

Edward M Leter

Peter M Steijlen

Klara Mosterd

Michel van Geel

Johan J Gille

Affiliations

Soon will be listed here.

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.

Citing Articles

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PTCH1 gene variants rs357564, rs2236405, rs2297086 and rs41313327, mRNA and tissue expression in basal cell carcinoma patients from Western Mexico.

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Peng X, Chen M, Wang D, Han R, Gao T, Liu L Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023; 52(2):223-229.

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