{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T14:41:26Z","timestamp":1790692886312,"version":"4.1.0"},"reference-count":12,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,4,7]],"date-time":"2016-04-07T00:00:00Z","timestamp":1459987200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Agence de Biomedicine, Fondation Jerome Lejeune, CREGEMES"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>The cardinal features of Primrose syndrome (MIM 259050) are dysmorphic facial features, macrocephaly, and intellectual disability, as well as large body size, height and weight, and calcified pinnae. A variety of neurological signs and symptoms have been reported including hearing loss, autism, behavioral abormalities, hypotonia, cerebral calcifications, and hypoplasia of the corpus callosum. Recently, heterozygous de novo missense mutations in <jats:italic>ZBTB20<\/jats:italic>, coding for a zing finger protein, have been identified in Primrose syndrome patients. We report a boy with intellectual disability carrying two de novo missense mutations in the last exon of <jats:italic>ZBTB20<\/jats:italic> (Ser616Phe and Gly741Arg; both previously unreported). One of them, Ser616Phe, affects an amino acid located in one of the C2H2 zing\u2010fingers involved in DNA\u2010binding and close to other missense mutations already described. Reverse phenotyping showed that this patient presents with classic features of Primrose syndrome (dysmorphic facies, macrocephaly, hearing loss, hypotonia, hypoplasia of the corpus callosum) and, in addition, congenital hypothyroidism. Review of the literature reveals another Primrose syndrome patient with hypothyroidism and thus, this may represent an under recognized component that should be investigated in other patients. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37645","type":"journal-article","created":{"date-parts":[[2016,4,10]],"date-time":"2016-04-10T17:43:03Z","timestamp":1460310183000},"page":"1626-1629","source":"Crossref","is-referenced-by-count":31,"title":["Novel de novo mutations in <i>ZBTB20<\/i> in Primrose syndrome with congenital hypothyroidism"],"prefix":"10.1002","volume":"170","author":[{"given":"Francesca","family":"Mattioli","sequence":"first","affiliation":[{"name":"Department of Translational Medicine and Neurogenetics IGBMC Illkirch France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amelie","family":"Piton","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine and Neurogenetics IGBMC Illkirch France"},{"name":"Laboratoire de Diagnostic G\u00e9n\u00e9tique H\u00f4pitaux Universitaires de Strasbourg Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9n\u00e9dicte","family":"G\u00e9rard","sequence":"additional","affiliation":[{"name":"Laboratoire de Diagnostic G\u00e9n\u00e9tique H\u00f4pitaux Universitaires de Strasbourg Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Superti\u2010Furga","sequence":"additional","affiliation":[{"name":"Centre for Molecular Diseases and Department of Pediatrics Lausanne University Hospital (CHUV) University of Lausanne Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Louis","family":"Mandel","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine and Neurogenetics IGBMC Illkirch France"},{"name":"Laboratoire de Diagnostic G\u00e9n\u00e9tique H\u00f4pitaux Universitaires de Strasbourg Strasbourg France"},{"name":"Chaire de G\u00e9n\u00e9tique Humaine Coll\u00e8ge de France Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheila","family":"Unger","sequence":"additional","affiliation":[{"name":"Service of Medical Genetics Lausanne University Hospital (CHUV) Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,4,7]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-002-0850-x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33955"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1210626110"},{"key":"e_1_2_6_5_1","first-page":"301","article-title":"The syndrome of mental handicap, cataracts, muscle wasting and skeletal abnormalities: Report of a second case","volume":"30","author":"Collacott RA","year":"1986","journal-title":"J Ment Defic 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