{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T11:29:00Z","timestamp":1789471740051,"version":"build-2803163510"},"reference-count":25,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2018,10,26]],"date-time":"2018-10-26T00:00:00Z","timestamp":1540512000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,12]]},"abstract":"<jats:p>Pierpont syndrome is a rare and sporadic syndrome, including developmental delay, facial characteristics, and abnormal extremities. Recently, a recurrent de novo <jats:italic>TBL1XR1<\/jats:italic> variant (c.1337A\u2009&gt;\u2009G; p.Tyr446Cys) has been identified in eight patients by whole\u2010exome sequencing. A dominant\u2010negative effect of this mutation is strongly suspected, since patients with <jats:italic>TBL1XR1<\/jats:italic> deletion and other variants predicting loss of function do not share the same phenotype. We report two patients with typical Pierpont\u2010like syndrome features. Exome sequencing allowed identifying a de novo heterozygous missense <jats:italic>TBL1XR1<\/jats:italic> variant in both patients, different from those already reported: p.Cys325Tyr and p.Tyr446His. The localization of these mutations and clinical features of Pierpont\u2010like syndrome suggest that their functional consequences are comparable with the recurrent mutation previously described, and provided additional data to understand molecular mechanisms of <jats:italic>TBL1XR1<\/jats:italic> anomalies.<\/jats:p>","DOI":"10.1002\/ajmg.a.40510","type":"journal-article","created":{"date-parts":[[2018,10,26]],"date-time":"2018-10-26T17:59:42Z","timestamp":1540576782000},"page":"2813-2818","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["<i>TBL1XR1<\/i> mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation"],"prefix":"10.1002","volume":"176","author":[{"given":"C.","family":"Lemattre","sequence":"first","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale H\u00f4pital Arnaud de Villeneuve  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Thevenon","sequence":"additional","affiliation":[{"name":"Equipe GAD, UMR1231 Universit\u00e9 de Bourgogne Franche Comt\u00e9  Dijon France"},{"name":"D\u00e9partement de G\u00e9n\u00e9tique et Procr\u00e9ation H\u00f4pital Couple\u2010Enfant, CHU  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Duffourd","sequence":"additional","affiliation":[{"name":"Equipe GAD, UMR1231 Universit\u00e9 de Bourgogne Franche Comt\u00e9  Dijon France"},{"name":"Orphanomix, SATT Grand Est  Dijon France"},{"name":"UF Innovation en Diagnostic G\u00e9nomique des Maladies Rares Centre Hospitalier Universitaire de Dijon  Dijon France"},{"name":"Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs et FHU TRANSLAD H\u00f4pital d\u2019enfants, CHU  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Nambot","sequence":"additional","affiliation":[{"name":"Equipe GAD, UMR1231 Universit\u00e9 de Bourgogne Franche Comt\u00e9  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Haquet","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale H\u00f4pital Arnaud de Villeneuve  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Vuadelle","sequence":"additional","affiliation":[{"name":"Lyc\u00e9e Philippe Lamour  N\u00eemes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Genevieve","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale H\u00f4pital Arnaud de Villeneuve  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Sarda","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale H\u00f4pital Arnaud de Villeneuve  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. 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