{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T15:45:56Z","timestamp":1788968756232,"version":"build-2803163510"},"reference-count":21,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,3,25]],"date-time":"2018-03-25T00:00:00Z","timestamp":1521936000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2018,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Basal cell nevus syndrome (<jats:styled-content style=\"fixed-case\">BCNS<\/jats:styled-content>) is an autosomal dominant disorder characterized by multiple basal cell carcinomas (<jats:styled-content style=\"fixed-case\">BCC<\/jats:styled-content>s), maxillary keratocysts, and cerebral calcifications. <jats:styled-content style=\"fixed-case\">BCNS<\/jats:styled-content> most commonly is caused by a germline mutation in the patched\u20101 (<jats:italic><jats:styled-content style=\"fixed-case\">PTCH<\/jats:styled-content>1<\/jats:italic>) gene. <jats:italic><jats:styled-content style=\"fixed-case\">PTCH<\/jats:styled-content>1<\/jats:italic> mutations are also described in patients with holoprosencephaly.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We have established a locus\u2010specific database for the <jats:italic><jats:styled-content style=\"fixed-case\">PTCH<\/jats:styled-content>1<\/jats:italic> gene using the Leiden Open Variation Database (<jats:styled-content style=\"fixed-case\">LOVD<\/jats:styled-content>). We included 117 new <jats:italic><jats:styled-content style=\"fixed-case\">PTCH<\/jats:styled-content>1<\/jats:italic> variations, in addition to 331 previously published unique <jats:italic><jats:styled-content style=\"fixed-case\">PTCH<\/jats:styled-content>1<\/jats:italic> mutations. These new mutations were found in 141 patients who had a positive <jats:italic><jats:styled-content style=\"fixed-case\">PTCH<\/jats:styled-content>1<\/jats:italic> mutation analysis in either the <jats:styled-content style=\"fixed-case\">VU<\/jats:styled-content> University Medical Centre (<jats:styled-content style=\"fixed-case\">VUMC<\/jats:styled-content>) or Maastricht University Medical Centre (<jats:styled-content style=\"fixed-case\">MUMC<\/jats:styled-content>) between 1995 and 2015.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The database contains 331 previously published unique <jats:italic><jats:styled-content style=\"fixed-case\">PTCH<\/jats:styled-content>1<\/jats:italic> mutations and 117 new <jats:italic><jats:styled-content style=\"fixed-case\">PTCH<\/jats:styled-content>1<\/jats:italic> variations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We have established a locus\u2010specific database for the <jats:italic><jats:styled-content style=\"fixed-case\">PTCH<\/jats:styled-content>1<\/jats:italic> gene using the Leiden Open Variation Database (<jats:styled-content style=\"fixed-case\">LOVD<\/jats:styled-content>). The database provides an open collection for both clinicians and researchers and is accessible online at <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/www.lovd.nl\/PTCH1\">http:\/\/www.lovd.nl\/PTCH1<\/jats:ext-link>.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.380","type":"journal-article","created":{"date-parts":[[2018,3,25]],"date-time":"2018-03-25T18:02:48Z","timestamp":1522000968000},"page":"409-415","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["New mutations and an updated database for the patched\u20101 (<i><scp>PTCH<\/scp>1<\/i>) gene"],"prefix":"10.1002","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3612-2486","authenticated-orcid":false,"given":"Marie G.","family":"Reinders","sequence":"first","affiliation":[{"name":"Department of Dermatology Maastricht University Medical Center Maastricht The Netherlands"},{"name":"GROW Research School for Oncology and Developmental Biology Maastricht University Medical Center Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonius F.","family":"van Hout","sequence":"additional","affiliation":[{"name":"Department of Dermatology Maastricht University Medical Center Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bet\u00fbl","family":"Cosgun","sequence":"additional","affiliation":[{"name":"Department of Dermatology Maastricht University Medical Center Maastricht The Netherlands"},{"name":"GROW Research School for Oncology and Developmental Biology Maastricht University Medical Center Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aim\u00e9e D.","family":"Paulussen","sequence":"additional","affiliation":[{"name":"GROW Research School for Oncology and Developmental Biology Maastricht University Medical Center Maastricht The Netherlands"},{"name":"Clinical Genetics Maastricht University Medical Center Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward M.","family":"Leter","sequence":"additional","affiliation":[{"name":"Clinical Genetics Maastricht University Medical Center Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter M.","family":"Steijlen","sequence":"additional","affiliation":[{"name":"Department of Dermatology Maastricht University Medical Center Maastricht The Netherlands"},{"name":"GROW Research School for Oncology and Developmental Biology Maastricht University Medical Center Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klara","family":"Mosterd","sequence":"additional","affiliation":[{"name":"Department of Dermatology Maastricht University Medical Center Maastricht The Netherlands"},{"name":"GROW Research School for Oncology and Developmental Biology Maastricht University Medical Center Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"van Geel","sequence":"additional","affiliation":[{"name":"Department of Dermatology Maastricht University Medical Center Maastricht The Netherlands"},{"name":"GROW Research School for Oncology and Developmental Biology Maastricht University Medical Center Maastricht The Netherlands"},{"name":"Clinical Genetics Maastricht University Medical Center Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johan J.","family":"Gille","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics VU University Medical Center Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,3,25]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3525"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34128"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/23.5.727"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/bjc.1991.435"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.6.460"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.14206"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.272.5268.1668"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970331)69:3<299::AID-AJMG16>3.0.CO;2-M"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/35101031"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1205865"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/dsu.12241"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-32"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-09-2574"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2005.06353.x"},{"key":"e_1_2_5_16_1","first-page":"249","article-title":"Postzygotic 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