{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T09:56:39Z","timestamp":1790416599881,"version":"4.1.0"},"reference-count":45,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,5,17]],"date-time":"2018-05-17T00:00:00Z","timestamp":1526515200000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2018,7]]},"abstract":"<jats:p>Wiedemann\u2010Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies. Following the identification of the causative gene (<jats:italic>KMT2A<\/jats:italic>) in 2012, only 31 cases of WSS have been described precisely in the literature. We report on 33 French individuals with a <jats:italic>KMT2A<\/jats:italic> mutation confirmed by targeted gene sequencing, high\u2010throughput sequencing or exome sequencing. Patients' molecular and clinical features were recorded and compared with the literature data. On the molecular level, we found 29 novel mutations. We observed autosomal dominant transmission of WSS in 3 families and mosaicism in one family. Clinically, we observed a broad phenotypic spectrum with regard to ID (mild to severe), the facies (typical or not of WSS) and associated malformations (bone, cerebral, renal, cardiac and ophthalmological anomalies). Hypertrichosis cubiti that was supposed to be pathognomonic in the literature was found only in 61% of our cases. This is the largest series of WSS cases yet described to date. A majority of patients exhibited suggestive features, but others were less characteristic, only identified by molecular diagnosis. The prevalence of WSS was higher than expected in patients with ID, suggesting than <jats:italic>KMT2A<\/jats:italic> is a major gene in ID.<\/jats:p>","DOI":"10.1111\/cge.13254","type":"journal-article","created":{"date-parts":[[2018,3,25]],"date-time":"2018-03-25T15:35:38Z","timestamp":1521992138000},"page":"141-152","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":76,"title":["Wiedemann\u2010Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases"],"prefix":"10.1111","volume":"94","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4951-2552","authenticated-orcid":false,"given":"S.","family":"Baer","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale H\u00f4pitaux Universitaires de Strasbourg, Institut G\u00e9n\u00e9tique M\u00e9dicale d'Alsace  Strasbourg France"},{"name":"Laboratoire de Diagnostic G\u00e9n\u00e9tique, H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Afenjar","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de G\u00e9n\u00e9tique H\u00f4pital Armand Trousseau\u2010La Roche\u2010Guyon, AP\u2010HP  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Smol","sequence":"additional","affiliation":[{"name":"Institut de G\u00e9n\u00e9tique M\u00e9dicale H\u00f4pital Jeanne de Flandre, Centre Hospitalier R\u00e9gional Universitaire de Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Piton","sequence":"additional","affiliation":[{"name":"Laboratoire de Diagnostic G\u00e9n\u00e9tique, H\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","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":"Y.","family":"Alembik","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale H\u00f4pitaux Universitaires de Strasbourg, Institut G\u00e9n\u00e9tique M\u00e9dicale d'Alsace  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5953-2728","authenticated-orcid":false,"given":"T.","family":"Bienvenu","sequence":"additional","affiliation":[{"name":"Institut Cochin, INSERM U1016, CNRS UMR8104 Universit\u00e9 Paris Descartes  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Boursier","sequence":"additional","affiliation":[{"name":"D\u00e9partement G\u00e9n\u00e9tique M\u00e9dicale, Laboratoire g\u00e9n\u00e9tique mol\u00e9culaire maladies auto inflammatoires et maladies rares CHRU de Montpellier  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.","family":"Boute","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique Centre Hospitalier R\u00e9gional Universitaire de Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Colson","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique Centre Hospitalier R\u00e9gional Universitaire de Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.\u2010P.","family":"Cordier","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale Hospices Civils de Lyon  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Cormier\u2010Daire","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique, INSERM UMR1163 Institut Imagine, H\u00f4pital Necker\u2010Enfants\u2010Malades, Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, AP\u2010HP  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Delobel","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Chromosomique Groupe Hospitalier de l'Institut Catholique de Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Doco\u2010Fenzy","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique CHU de Reims  Reims France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Duban\u2010Bedu","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Chromosomique Groupe Hospitalier de l'Institut Catholique de Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Fradin","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique CHU Rennes  Rennes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Genevi\u00e8ve","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale, CHRU Montpellier Facult\u00e9 de M\u00e9decine de Montpellier\u2010N\u00eemes, INSERM U1183  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Goldenberg","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU de Rouen  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Grelet","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale Assistance Publique H\u00f4pitaux de Marseille  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Haye","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique, Unit\u00e9 Fonctionnelle de G\u00e9n\u00e9tique M\u00e9dicale CHU Paris\u2010GH La Piti\u00e9 Salp\u00eatri\u00e8re\u2010Charles Foix  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Heron","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique, Unit\u00e9 Fonctionnelle de G\u00e9n\u00e9tique M\u00e9dicale CHU Paris\u2010GH La Piti\u00e9 Salp\u00eatri\u00e8re\u2010Charles Foix  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Isidor","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU de Nantes  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Keren","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Fonctionnelle de G\u00e9nomique du D\u00e9veloppement Centre de G\u00e9n\u00e9tique Mol\u00e9culaire et Chromosomique, CHU Paris\u2010GH La Piti\u00e9 Salp\u00eatri\u00e8re\u2010Charles Foix  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Lacombe","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale CHU Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.\u2010S.","family":"L\u00e8bre","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique, Service de G\u00e9n\u00e9tique et Biologie de la Reproduction CHU de Reims  Reims France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Lesca","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale Hospices Civils de Lyon  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Masurel","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique CHU Dijon, H\u00f4pital d'Enfants  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Mathieu\u2010Dramard","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique CHU Amiens Picardie  Amiens France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Nava","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Fonctionnelle de G\u00e9nomique du D\u00e9veloppement Centre de G\u00e9n\u00e9tique Mol\u00e9culaire et Chromosomique, CHU Paris\u2010GH La Piti\u00e9 Salp\u00eatri\u00e8re\u2010Charles Foix  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3985-1286","authenticated-orcid":false,"given":"L.","family":"Pasquier","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique CHU Rennes  Rennes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Petit","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique CHU Amiens Picardie  Amiens France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Philip","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale Assistance Publique H\u00f4pitaux de Marseille  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5244-5325","authenticated-orcid":false,"given":"J.","family":"Piard","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Humaine Universit\u00e9 de Franche\u2010Comt\u00e9, CHU Besan\u00e7on  Besan\u00e7on France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Rondeau","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique, INSERM UMR1163 Institut Imagine, H\u00f4pital Necker\u2010Enfants\u2010Malades, Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, AP\u2010HP  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Saugier\u2010Veber","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique, CHU Rouen, Inserm U1079 Institut pour la recherche et l'innovation en Biom\u00e9decine, Universit\u00e9 de Rouen  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Sukno","sequence":"additional","affiliation":[{"name":"Service de Neurop\u00e9diatrie, H\u00f4pital Saint Vincent de Paul Groupe Hospitalier de l'Institut Catholique Lillois, Facult\u00e9 Libre de M\u00e9decine  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Thevenon","sequence":"additional","affiliation":[{"name":"Equipe d'Accueil 4271, G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement Universit\u00e9 de Bourgogne  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Van\u2010Gils","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale CHU Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Vincent\u2010Delorme","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique Centre Hospitalier R\u00e9gional Universitaire de Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Willems","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale, CHRU Montpellier Facult\u00e9 de M\u00e9decine de Montpellier\u2010N\u00eemes, INSERM U1183  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Schaefer","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale H\u00f4pitaux Universitaires de Strasbourg, Institut G\u00e9n\u00e9tique M\u00e9dicale d'Alsace  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Morin","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique CHU Amiens Picardie  Amiens France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,5,17]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mrdd.10031"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ridd.2010.12.018"},{"key":"e_1_2_7_4_1","first-page":"243","article-title":"Review of recent epidemiological studies of mental retardation: prevalence, associated disorders, and etiology","volume":"92","author":"McLaren J","year":"1987","journal-title":"Am J Ment Retard"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature13394"},{"key":"e_1_2_7_6_1","first-page":"198","volume-title":"A Syndrome of Abnormal Facies, Short Stature, and Psychomotor Retardation Atlas of Clinical Syndromes","author":"Wiedemann HR","year":"1989"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200009020-00021"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.06.008"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(02)00741-4"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-015-1535-8"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12586"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103233"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1963.02080040590010"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI77435"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102554"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.154"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12041-015-0578-x"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2014.14604"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3009262"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(14)61705-0"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.186"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1515792"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature21062"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-103964"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.03.006"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38025"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073816674095"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-02434-4"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-06-437210"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36590"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.4103\/0378-6323.82414"},{"key":"e_1_2_7_33_1","first-page":"XII\u2010252","volume-title":"Sant\u00e9 de l'enfant: propositions pour un meilleur suivi","author":"Inserm","year":"2009"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-15-49"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37681"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33587"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38405"},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37130"},{"key":"e_1_2_7_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22901"},{"key":"e_1_2_7_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(12)61480-9"},{"key":"e_1_2_7_41_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1206524"},{"key":"e_1_2_7_42_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1004772"},{"key":"e_1_2_7_43_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3010076"},{"key":"e_1_2_7_44_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100440"},{"key":"e_1_2_7_45_1","doi-asserted-by":"publisher","DOI":"10.1038\/378505a0"},{"key":"e_1_2_7_46_1","doi-asserted-by":"publisher","DOI":"10.1002\/gene.1066"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13254","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13254","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T16:21:06Z","timestamp":1695486066000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13254"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,5,17]]},"references-count":45,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,7]]}},"alternative-id":["10.1111\/cge.13254"],"URL":"https:\/\/doi.org\/10.1111\/cge.13254","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,5,17]]},"assertion":[{"value":"2017-12-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-03-20","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-05-17","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}