{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T20:45:31Z","timestamp":1792701931254,"version":"4.5.0"},"reference-count":21,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2016,2,24]],"date-time":"2016-02-24T00:00:00Z","timestamp":1456272000000},"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; Gen Med"],"published-print":{"date-parts":[[2016,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Poikiloderma is defined as a chronic skin condition presenting with a combination of punctate atrophy, areas of depigmentation, hyperpigmentation and telangiectasia. In a variety of hereditary syndromes such as Rothmund\u2013Thomson syndrome (<jats:styled-content style=\"fixed-case\">RTS<\/jats:styled-content>), Clericuzio\u2010type poikiloderma with neutropenia (<jats:styled-content style=\"fixed-case\">PN<\/jats:styled-content>) and Dyskeratosis Congenita (<jats:styled-content style=\"fixed-case\">DC<\/jats:styled-content>), poikiloderma occurs as one of the main symptoms. Here, we report on genotype and phenotype data of a cohort of 44 index patients with <jats:styled-content style=\"fixed-case\">RTS<\/jats:styled-content> or related genodermatoses.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p><jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> samples from 43 patients were screened for variants in the 21 exons of the <jats:italic><jats:styled-content style=\"fixed-case\">RECQL<\/jats:styled-content>4<\/jats:italic> gene using <jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> SSCP<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">PAGE<\/jats:styled-content> analysis and\/or Sanger sequencing. Patients with only one or no detectable mutation in the <jats:italic><jats:styled-content style=\"fixed-case\">RECQL<\/jats:styled-content>4<\/jats:italic> gene were additionally tested for variants in the 8 exons of the <jats:italic><jats:styled-content style=\"fixed-case\">USB<\/jats:styled-content>1 (C16orf57)<\/jats:italic> gene by Sanger sequencing. The effect of novel variants was evaluated by phylogenic studies, single\u2010nucleotide polymorphism (<jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>) databases and in silico analyses.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified 23 different <jats:italic><jats:styled-content style=\"fixed-case\">RECQL<\/jats:styled-content>4<\/jats:italic> mutations including 10 novel and one homozygous novel <jats:italic><jats:styled-content style=\"fixed-case\">USB<\/jats:styled-content>1 (C16orf57)<\/jats:italic> mutation in a patient with <jats:styled-content style=\"fixed-case\">PN<\/jats:styled-content>. Moreover, we describe 31 <jats:italic><jats:styled-content style=\"fixed-case\">RECQL<\/jats:styled-content>4<\/jats:italic> and 8 <jats:italic><jats:styled-content style=\"fixed-case\">USB<\/jats:styled-content>1<\/jats:italic> sequence variants, four of them being novel intronic <jats:italic><jats:styled-content style=\"fixed-case\">RECQL<\/jats:styled-content>4<\/jats:italic> sequence changes that may have some deleterious effects on splicing mechanisms and need further evaluation by transcript analyses.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The current study contributes to the improvement of genetic diagnostic strategies and interpretation in <jats:styled-content style=\"fixed-case\">RTS<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">PN<\/jats:styled-content> that is relevant in order to assess the patients' cancer risk, to avoid continuous and inconclusive clinical evaluations and to clarify the recurrence risk in the families. Additionally, it shows that the\u00a0phenotype of more than 50% of the patients with suspected Rothmund\u2013Thomson disease may be due to mutations in other genes raising the need for further extended genetic analyses.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.209","type":"journal-article","created":{"date-parts":[[2016,2,26]],"date-time":"2016-02-26T08:30:34Z","timestamp":1456475434000},"page":"359-366","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Rothmund\u2013Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the <i><scp>RECQL<\/scp>4<\/i> and <i><scp>USB<\/scp>1 (C16orf57)<\/i> gene"],"prefix":"10.1002","volume":"4","author":[{"given":"Aude\u2010Annick","family":"Suter","sequence":"first","affiliation":[{"name":"Division of Human Genetics Department of Paediatrics Inselspital University of Bern CH\u20103010 Bern Switzerland"},{"name":"Department of Clinical Research University of Bern CH\u20103010 Bern Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Itin","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Basel Basel Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karl","family":"Heinimann","sequence":"additional","affiliation":[{"name":"Medical Genetics University Hospital Basel Basel Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Munaza","family":"Ahmed","sequence":"additional","affiliation":[{"name":"Wessex Clinical Genetics Service University Hospital Southampton Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tazeen","family":"Ashraf","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Guys Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Fryssira","sequence":"additional","affiliation":[{"name":"Department 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