{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T12:46:19Z","timestamp":1785847579647,"version":"3.56.0"},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T00:00:00Z","timestamp":1707436800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T00:00:00Z","timestamp":1707436800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100004769","name":"Universit\u00e0 degli Studi di Pavia","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004769","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cerebellum"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>KBG syndrome is a rare genetic disorder caused by heterozygous pathogenic variants in <jats:italic>ANKRD11<\/jats:italic>. Affected individuals have developmental delay, short stature, characteristic facial features, and other dysmorphic findings. To date, a spectrum of unspecific neuroradiological defects has been reported in KBG patients, such as cortical defects, white matter abnormalities, corpus callosum, and cerebellar vermis hypoplasia.<\/jats:p><jats:p>Deep clinical and neuroradiological phenotyping and genotype of a patient presenting with mild cognitive and behavioral problems were obtained after written informed consent.<\/jats:p><jats:p>We herein describe the first KBG patient presenting with cerebellar heterotopia, a heterogeneous malformation characterized by the presence of clusters of neurons within the white matter of cerebellar hemispheres.<\/jats:p><jats:p>This novel association broadens the neuroradiological spectrum of KBG syndrome, and further prompts to investigate the potential functions of ANKRD11 in cerebellar development.<\/jats:p>","DOI":"10.1007\/s12311-024-01661-6","type":"journal-article","created":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T06:02:22Z","timestamp":1707458542000},"page":"1736-1740","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Cerebellar Heterotopia: Broadening the Neuroradiological Spectrum of KBG Syndrome"],"prefix":"10.1007","volume":"23","author":[{"given":"Adelaide","family":"Carrara","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camilla","family":"Mangiarotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludovica","family":"Pasca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Politano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fulvio D.\u2019","family":"Abrusco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronica Carmen","family":"Barbero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriana","family":"Carpani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renato","family":"Borgatti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Pichiecchio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enza Maria","family":"Valente","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Romina","family":"Romaniello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,2,9]]},"reference":[{"issue":"3","key":"1661_CR1","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1097\/MCD.0000000000000421","volume":"31","author":"BB Geckinli","year":"2022","unstructured":"Geckinli BB, Alavanda C, Ates EA, Yildirim O, Arman A. Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant. Clin Dysmorphol. 2022;31(3):153\u20136.","journal-title":"Clin Dysmorphol"},{"key":"1661_CR2","doi-asserted-by":"publisher","unstructured":"Goldenberg A, Riccardi F, Tessier A, Pfundt R, Busa T, Cacciagli P, et al. Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11. Am J Med Genet A. 2016;170(11):2847\u20132859.\u00a0https:\/\/doi.org\/10.1002\/ajmg.a.37878.","DOI":"10.1002\/ajmg.a.37878"},{"issue":"5","key":"1661_CR3","first-page":"7","volume":"11","author":"J Herrmann","year":"1975","unstructured":"Herrmann J, Pallister PD, Tiddy W, Opitz JM. The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. Birth Defects Orig Artic Ser. 1975;11(5):7\u201318.","journal-title":"Birth Defects Orig Artic Ser"},{"key":"1661_CR4","doi-asserted-by":"publisher","unstructured":"Martinez-Cayuelas E, Blanco-Kelly F, Lopez-Grondona F, Swafiri ST, Lopez-Rodriguez R, Losada-Del Pozo R, et al. Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients. J Med Genet. 2023;60(7):644\u2013654. https:\/\/doi.org\/10.1136\/jmg-2022-108632.","DOI":"10.1136\/jmg-2022-108632"},{"key":"1661_CR5","doi-asserted-by":"publisher","unstructured":"Low K, Ashraf T, Canham N, Clayton-Smith J, Deshpande C, Donaldson A, et al. Clinical and genetic aspects of KBG syndrome. Am J Med Genet A. 2016;170(11):2835\u20132846.\u00a0https:\/\/doi.org\/10.1002\/ajmg.a.37842.","DOI":"10.1002\/ajmg.a.37842"},{"key":"1661_CR6","doi-asserted-by":"publisher","unstructured":"Oegema R, Schot R, de Wit MCY, Lequin MH, Oostenbrink R, de Coo IFM, et al. KBG syndrome associated with periventricular nodular heterotopia. Clin Dysmorphol. 2010;19(3):164\u2013165.\u00a0https:\/\/doi.org\/10.1097\/MCD.0b013e3283387b3b.","DOI":"10.1097\/MCD.0b013e3283387b3b"},{"key":"1661_CR7","doi-asserted-by":"crossref","unstructured":"Martinez-Cayuelas E, Blanco-Kelly F, Lopez-Grondona F, Swafiri ST, Lopez-Rodriguez R, Losada-Del Pozo R, et al. Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients. J Med Genet. 2023;60(7):644\u201354. https:\/\/doi.org\/10.1136\/jmg-2022-108632.","DOI":"10.1136\/jmg-2022-108632"},{"issue":"1","key":"1661_CR8","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1016\/j.devcel.2014.11.031","volume":"32","author":"D Gallagher","year":"2015","unstructured":"Gallagher D, Voronova A, Zander MA, Cancino GI, Bramall A, Krause MP, et al. Ankrd11 is a chromatin regulator involved in autism that is essential for neural development. Dev Cell. 2015;32(1):31\u201342. https:\/\/doi.org\/10.1016\/j.devcel.2014.11.031.","journal-title":"Dev Cell"},{"key":"1661_CR9","doi-asserted-by":"publisher","unstructured":"Ka M, Kim WY. ANKRD11 associated with intellectual disability and autism regulates dendrite differentiation via the BDNF\/TrkB signaling pathway. Neurobiol Dis. 2018;111:138\u2013152.\u00a0https:\/\/doi.org\/10.1016\/j.nbd.2017.12.008.ANKRD11.","DOI":"10.1016\/j.nbd.2017.12.008.ANKRD11"},{"key":"1661_CR10","doi-asserted-by":"publisher","unstructured":"Bestetti I, Crippa M, Sironi A, Tumiatti F, Masciadri M, Smeland MF, et al. Expanding the molecular spectrum of ANKRD11 gene defects in 33 patients with a clinical presentation of KBG syndrome. Int J Mol Sci. 2022;23(11):5912. https:\/\/doi.org\/10.3390\/ijms23115912.","DOI":"10.3390\/ijms23115912"},{"key":"1661_CR11","doi-asserted-by":"publisher","unstructured":"Morel Swols D, Foster J 2nd, Tekin M. KBG syndrome. 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AJNR Am J Neuroradiol. 2019;40(12):2154\u20132160. https:\/\/doi.org\/10.3174\/ajnr.A6280.","DOI":"10.3174\/ajnr.A6280"}],"container-title":["The Cerebellum"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-024-01661-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12311-024-01661-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12311-024-01661-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,24]],"date-time":"2024-07-24T12:32:43Z","timestamp":1721824363000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12311-024-01661-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,9]]},"references-count":17,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2024,8]]}},"alternative-id":["1661"],"URL":"https:\/\/doi.org\/10.1007\/s12311-024-01661-6","relation":{},"ISSN":["1473-4230"],"issn-type":[{"value":"1473-4230","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,2,9]]},"assertion":[{"value":"19 January 2024","order":1,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 February 2024","order":2,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Written informed consent was obtained from the patient\u2019s legal guardians. This study was approved by the local ethical committee (protocol n 0099934\/21).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical Approval and Consent to Participate"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}}]}}