{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T13:43:42Z","timestamp":1792417422096,"version":"4.4.0"},"reference-count":37,"publisher":"Oxford University Press (OUP)","issue":"24","license":[{"start":{"date-parts":[[2022,7,21]],"date-time":"2022-07-21T00:00:00Z","timestamp":1658361600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002301","name":"Estonian Research Council","doi-asserted-by":"publisher","award":["PRG471"],"award-info":[{"award-number":["PRG471"]}],"id":[{"id":"10.13039\/501100002301","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,12,16]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>KBG syndrome (KBGS) is characterized by distinctive facial gestalt, short stature and variable clinical findings. With ageing, some features become more recognizable, allowing a differential diagnosis. We aimed to better characterize natural history of KBGS. In the context of a European collaborative study, we collected the largest cohort of KBGS patients (49). A combined array- based Comparative Genomic Hybridization and next generation sequencing (NGS) approach investigated both genomic Copy Number Variants and SNVs. Intellectual disability (ID) (82%) ranged from mild to moderate with severe ID identified in two patients. Epilepsy was present in 26.5%. Short stature was consistent over time, while occipitofrontal circumference (median value: \u22120.88 SD at birth) normalized over years. Cerebral anomalies, were identified in 56% of patients and thus represented the second most relevant clinical feature reinforcing clinical suspicion in the paediatric age when short stature and vertebral\/dental anomalies are vague. Macrodontia, oligodontia and dental agenesis (53%) were almost as frequent as skeletal anomalies, such as brachydactyly, short fifth finger, fifth finger clinodactyly, pectus excavatum\/carinatum, delayed bone age. In 28.5% of individuals, prenatal ultrasound anomalies were reported. Except for three splicing variants, leading to a premature termination, variants were almost all frameshift. Our results, broadening the spectrum of KBGS phenotype progression, provide useful tools to facilitate differential diagnosis and improve clinical management. We suggest to consider a wider range of dental anomalies before excluding diagnosis and to perform a careful odontoiatric\/ear-nose-throat (ENT) evaluation in order to look for even submucosal palate cleft given the high percentage of palate abnormalities. NGS approaches, following evidence of antenatal ultrasound anomalies, should include ANKRD11.<\/jats:p>","DOI":"10.1093\/hmg\/ddac167","type":"journal-article","created":{"date-parts":[[2022,7,21]],"date-time":"2022-07-21T14:21:33Z","timestamp":1658413293000},"page":"4131-4142","source":"Crossref","is-referenced-by-count":36,"title":["Natural history of KBG syndrome in a large European cohort"],"prefix":"10.1093","volume":"31","author":[{"given":"Lorenzo","family":"Loberti","sequence":"first","affiliation":[{"name":"Medical Genetics, University of Siena , Siena 53100 , Italy"},{"name":"Med Biotech Hub and Competence Centre , Department of Medical Biotechnologies, , Siena 53100 , Italy"},{"name":"University of Siena , Department of Medical Biotechnologies, , Siena 53100 , Italy"},{"name":"Genetica Medica, Azienda Ospedaliera Universitaria Senese , Siena 53100 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia Pia","family":"Bruno","sequence":"additional","affiliation":[{"name":"Medical Genetics, University of Siena , Siena 53100 , Italy"},{"name":"Med Biotech Hub and Competence Centre , Department of Medical Biotechnologies, , Siena 53100 , Italy"},{"name":"University of Siena , Department of Medical Biotechnologies, , Siena 53100 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Granata","sequence":"additional","affiliation":[{"name":"Medical Genetics, University of Siena , Siena 53100 , Italy"},{"name":"Med Biotech Hub and Competence Centre , Department of Medical Biotechnologies, , Siena 53100 , Italy"},{"name":"University of Siena , Department of Medical Biotechnologies, , Siena 53100 , Italy"},{"name":"Genetica Medica, Azienda Ospedaliera Universitaria Senese , Siena 53100 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriella","family":"Doddato","sequence":"additional","affiliation":[{"name":"Medical Genetics, University of Siena , Siena 53100 , Italy"},{"name":"Med Biotech Hub and Competence Centre , Department of Medical Biotechnologies, , Siena 53100 , Italy"},{"name":"University of Siena , Department of Medical Biotechnologies, , Siena 53100 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Resciniti","sequence":"additional","affiliation":[{"name":"Medical Genetics, University of Siena , Siena 53100 , Italy"},{"name":"Med Biotech Hub and Competence Centre , Department of Medical Biotechnologies, , Siena 53100 , Italy"},{"name":"University of Siena , Department of Medical Biotechnologies, , Siena 53100 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Fava","sequence":"additional","affiliation":[{"name":"Medical Genetics, University of Siena , Siena 53100 , Italy"},{"name":"Med Biotech Hub and Competence Centre , Department of Medical Biotechnologies, , Siena 53100 , Italy"},{"name":"University of Siena , Department of Medical Biotechnologies, , Siena 53100 , Italy"},{"name":"Genetica Medica, Azienda Ospedaliera Universitaria Senese , Siena 53100 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Carullo","sequence":"additional","affiliation":[{"name":"Medical Genetics, University of Siena , Siena 53100 , Italy"},{"name":"Med Biotech Hub and Competence Centre , Department of Medical Biotechnologies, , Siena 53100 , Italy"},{"name":"University of Siena , Department of Medical Biotechnologies, , Siena 53100 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Rahikkala","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics , PEDEGO Research Unit, and Medical Research Center Oulu, , Oulu 90014 , Finland"},{"name":"University of Oulu and Oulu University Hospital , PEDEGO Research Unit, and Medical Research Center Oulu, , Oulu 90014 , Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"Jouret","sequence":"additional","affiliation":[{"name":"National Center of Genetics (NCG), Laboratoire national de sant\u00e9 (LNS) , L-3555 Dudelange , Luxembourg"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonie A","family":"Menke","sequence":"additional","affiliation":[{"name":"Amsterdam UMC location University of Amsterdam, Department of Pediatrics , Amsterdam 1100 , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien","family":"Lederer","sequence":"additional","affiliation":[{"name":"Institut de Pathologie et de G\u00e9n\u00e9tique; Centre de G\u00e9n\u00e9tique Humaine , Gosselies 6041 , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Vrielynck","sequence":"additional","affiliation":[{"name":"William Lennox Neurological Hospital, Reference Center for Refractory Epilepsy UCLouvain , 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Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Constantia","family":"Aristidou","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics and Genomics, The Cyprus Institute of Neurology & Genetics , Nicosia 1683 , Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George A","family":"Tanteles","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics and Genomics, The Cyprus Institute of Neurology & Genetics , Nicosia 1683 , Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Maystadt","sequence":"additional","affiliation":[{"name":"Institut de Pathologie et de G\u00e9n\u00e9tique; Centre de G\u00e9n\u00e9tique Humaine , Gosselies 6041 , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tinatin","family":"Tkemaladze","sequence":"additional","affiliation":[{"name":"Department of Molecular and Medical Genetics, Tbilisi State Medical 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Artic. Ser."},{"key":"2022121720474880900_ref2","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1186\/s13023-017-0736-8","article-title":"KBG syndrome","volume":"12","author":"Morel Swols","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"2022121720474880900_ref3","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1111\/cge.13977","article-title":"ANKRD11 variants: KBG syndrome and beyond","volume":"100","author":"Parenti","year":"2021","journal-title":"Clin. Genet."},{"key":"2022121720474880900_ref4","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1016\/j.ejmg.2015.10.007","article-title":"Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders","volume":"58","author":"Ropers","year":"2015","journal-title":"Eur. J. Med. Genet."},{"key":"2022121720474880900_ref5","doi-asserted-by":"crossref","first-page":"2835","DOI":"10.1002\/ajmg.a.37842","article-title":"Clinical and genetic aspects of KBG syndrome","volume":"170","author":"Low","year":"2016","journal-title":"Am. J. Med. Genet. A"},{"key":"2022121720474880900_ref6","doi-asserted-by":"crossref","first-page":"9","DOI":"10.3389\/fped.2021.649043","article-title":"Case Report: Two Newly Diagnosed Patients With KBG Syndrome\u2014Two Different Molecular Changes","volume":"9","author":"Wojciechowska","year":"2021","journal-title":"Front. Pediatr."},{"key":"2022121720474880900_ref7","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1002\/ajmg.a.61524","article-title":"KBG syndrome: Common and uncommon clinical features based on 31 new patients","volume":"182","author":"Gnazzo","year":"2020","journal-title":"Am. J. Med. Genet. 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Chem."},{"key":"2022121720474880900_ref11","doi-asserted-by":"crossref","first-page":"2847","DOI":"10.1002\/ajmg.a.37878","article-title":"Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11","volume":"170","author":"Goldenberg","year":"2016","journal-title":"Am. J. Med. Genet. A"},{"key":"2022121720474880900_ref12","doi-asserted-by":"crossref","first-page":"1449","DOI":"10.1002\/ajmg.a.38724","article-title":"KBG syndrome patient due to 16q24.3 microdeletion presenting with a paratesticular rhabdoid tumor: Coincidence or cancer predisposition?","volume":"176","author":"Behnert","year":"2018","journal-title":"Am. J. Med. Genet. 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