{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T05:18:36Z","timestamp":1791350316601,"version":"4.3.1"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,3,26]],"date-time":"2014-03-26T00:00:00Z","timestamp":1395792000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,3]]},"abstract":"<jats:p>Three overlapping conditions, namely Rothmund\u2013Thomson (<jats:styled-content style=\"fixed-case\">RTS<\/jats:styled-content>), Baller\u2010Gerold (<jats:styled-content style=\"fixed-case\">BGS<\/jats:styled-content>) and <jats:styled-content style=\"fixed-case\">RAPADILINO<\/jats:styled-content> syndromes, have been attributed to <jats:italic><jats:styled-content style=\"fixed-case\">RECQL4<\/jats:styled-content><\/jats:italic> mutations. Differential diagnoses depend on the clinical presentation, but the numbers of known genes remain low, leading to the widespread prescription of <jats:italic><jats:styled-content style=\"fixed-case\">RECQL4<\/jats:styled-content><\/jats:italic> sequencing. The aim of our study was therefore to determine the best clinical indicators for the presence of <jats:italic><jats:styled-content style=\"fixed-case\">RECQL4<\/jats:styled-content><\/jats:italic> mutations in a series of 39 patients referred for <jats:italic><jats:styled-content style=\"fixed-case\">RECQL4<\/jats:styled-content><\/jats:italic> molecular analysis and belonging to the <jats:styled-content style=\"fixed-case\">RTS<\/jats:styled-content> (27 cases) and <jats:styled-content style=\"fixed-case\">BGS<\/jats:styled-content> (12 cases) spectrum. One or two deleterious <jats:italic><jats:styled-content style=\"fixed-case\">RECQL4<\/jats:styled-content><\/jats:italic> mutations were found in 10\/27 patients referred for <jats:styled-content style=\"fixed-case\">RTS<\/jats:styled-content> diagnosis. Clinical and molecular reevaluation led to a different diagnosis in 7\/17 negative cases, including Clericuzio\u2010type poikiloderma with neutropenia, hereditary sclerosing poikiloderma, and craniosynostosis\/anal anomalies\/porokeratosis. No <jats:italic><jats:styled-content style=\"fixed-case\">RECQL4<\/jats:styled-content><\/jats:italic> mutations were found in the <jats:styled-content style=\"fixed-case\">BGS<\/jats:styled-content> group without poikiloderma, confirming that <jats:italic><jats:styled-content style=\"fixed-case\">RECQL4<\/jats:styled-content><\/jats:italic> sequencing was not indicated in this phenotype. One chromosomal abnormality and one <jats:italic><jats:styled-content style=\"fixed-case\">TWIST<\/jats:styled-content><\/jats:italic> mutation was found in this cohort. This study highlights the search for differential diagnoses before the prescription of <jats:italic><jats:styled-content style=\"fixed-case\">RECQL4<\/jats:styled-content><\/jats:italic> sequencing in this clinically heterogeneous group. The combination of clinically defined subgroups and next\u2010generation sequencing will hopefully bring to light new molecular bases of syndromes with poikiloderma, as well as <jats:styled-content style=\"fixed-case\">BGS<\/jats:styled-content> without poikiloderma.<\/jats:p>","DOI":"10.1111\/cge.12361","type":"journal-article","created":{"date-parts":[[2014,2,17]],"date-time":"2014-02-17T10:26:46Z","timestamp":1392632806000},"page":"244-251","source":"Crossref","is-referenced-by-count":26,"title":["Search for <i><scp>ReCQL4<\/scp><\/i> mutations in 39 patients genotyped for suspected Rothmund\u2013Thomson\/Baller\u2010Gerold syndromes"],"prefix":"10.1111","volume":"87","author":[{"given":"J.","family":"Piard","sequence":"first","affiliation":[{"name":"EA 4271 GAD \u201cG\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement\u201d, IFR Sant\u00e9 STIC Universit\u00e9 de Bourgogne Dijon France"},{"name":"Centre de G\u00e9n\u00e9tique Humaine CHU Besan\u00e7on Besan\u00e7on France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Aral","sequence":"additional","affiliation":[{"name":"EA 4271 GAD \u201cG\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement\u201d, IFR Sant\u00e9 STIC Universit\u00e9 de Bourgogne Dijon France"},{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, Plateau Technique de Biologie, FHU\u2010TRANSLAD, Centre de R\u00e9f\u00e9rence Maladies Rares \u201cAnomalies du D\u00e9veloppement et Syndromes Malformatifs\u201d de l'Interr\u00e9gion Est, Centre de G\u00e9n\u00e9tique, H\u00f4pital d'Enfants Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Vabres","sequence":"additional","affiliation":[{"name":"EA 4271 GAD \u201cG\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement\u201d, IFR Sant\u00e9 STIC Universit\u00e9 de Bourgogne Dijon France"},{"name":"Service de Dermatologie Dijon France"},{"name":"Service de G\u00e9n\u00e9tique CHU Dijon Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Holder\u2010Espinasse","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique CHU Lille Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"M\u00e9garban\u00e9","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de G\u00e9n\u00e9tique M\u00e9dicale et INSERM UMR S_910 P\u00f4le Technologie Sant\u00e9, Universit\u00e9 Saint Joseph Beirut Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Gauthier","sequence":"additional","affiliation":[{"name":"Service de Dermatologie Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Capra","sequence":"additional","affiliation":[{"name":"U.O. 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