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Natural history of adults with KBG syndrome: A physician-reported experience.
Bayat A, Grimes H, de Boer E, Herlin MK, Dahl RS, Lund ICB, Bayat M, Bolund ACS, Gjerulfsen CE, Gregersen PA, Zilmer M, Juhl S, Cebula K, Rahikkala E, Maystadt I, Peron A, Vignoli A, Alfano RM, Stanzial F, Benedicenti F, Currò A, Luk HM, Jouret G, Zurita E, Heuft L, Schnabel F, Busche A, Veenstra-Knol HE, Tkemaladze T, Vrielynck P, Lederer D, Platzer K, Ockeloen CW, Goel H, Low KJ. Bayat A, et al. Among authors: ockeloen cw. Genet Med. 2024 Aug;26(8):101170. doi: 10.1016/j.gim.2024.101170. Epub 2024 May 27. Genet Med. 2024. PMID: 38818797 Free article.
PURPOSE: KBG syndrome (KBGS) is a rare neurodevelopmental syndrome caused by haploinsufficiency of ANKRD11. ...
PURPOSE: KBG syndrome (KBGS) is a rare neurodevelopmental syndrome caused by haploinsufficiency of ANKRD11. ...
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Peluso F, Caraffi SG, Contrò G, Valeri L, Napoli M, Carboni G, Seth A, Zuntini R, Coccia E, Astrea G, Bisgaard AM, Ivanovski I, Maitz S, Brischoux-Boucher E, Carter MT, Dentici ML, Devriendt K, Bellini M, Digilio MC, Doja A, Dyment DA, Farholt S, Ferreira CR, Wolfe LA, Gahl WA, Gnazzo M, Goel H, Grønborg SW, Hammer T, Iughetti L, Kleefstra T, Koolen DA, Lepri FR, Lemire G, Louro P, McCullagh G, Madeo SF, Milone A, Milone R, Nielsen JEK, Novelli A, Ockeloen CW, Pascarella R, Pippucci T, Ricca I, Robertson SP, Sawyer S, Falkenberg Smeland M, Stegmann S, Stumpel CT, Goel A, Taylor JM, Barbuti D, Soresina A, Bedeschi MF, Battini R, Cavalli A, Fusco C, Iascone M, Van Maldergem L, Venkateswaran S, Zuffardi O, Vergano S, Garavelli L, Bayat A. Peluso F, et al. Among authors: ockeloen cw. J Med Genet. 2023 Nov 27;60(12):1224-1234. doi: 10.1136/jmg-2023-109141. J Med Genet. 2023. PMID: 37586838 Free PMC article. Review.
METHODS: CNS and/or skeletal imaging were collected from molecularly confirmed individuals with KBG syndrome through an international network. We evaluated the original imaging and compared our results with data in the literature. ...Additional features included patulous i …
METHODS: CNS and/or skeletal imaging were collected from molecularly confirmed individuals with KBG syndrome through an international …
Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review.
Aukema SM, Vandenput K, Scarano E, Goel H, Guo L, Vanneste M, Devriendt K, Zwaveling-Soonawala N, Kiewert C, Kuechler A, Parenti I, Orlandini E, de Boer E, Banka S, Wall E, Lyon GJ, Low KJ, Geelen JM, van der Zwan YG, Ockeloen CW. Aukema SM, et al. Among authors: ockeloen cw. Am J Med Genet A. 2025 Dec;197(12):e64168. doi: 10.1002/ajmg.a.64168. Epub 2025 Jul 17. Am J Med Genet A. 2025. PMID: 40673726 Review.
KBG syndrome is one of the most frequent neurodevelopmental disorders and is caused by ANKRD11 variants. ...Limited evidence suggests benefits for some patients with KBG syndrome, but systematic analysis and detailed phenotyping are lacking. In this study, we includ …
KBG syndrome is one of the most frequent neurodevelopmental disorders and is caused by ANKRD11 variants. ...Limited evidence suggests …
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.
Buijsse N, Jansen FE, Ockeloen CW, van Kempen MJA, Zeidler S, Willemsen MH, Scarano E, Monticone S, Zonneveld-Huijssoon E, Low KJ, Bayat A, Sisodiya SM, Samanta D, Lesca G, de Jong D, Giltay JC, Verbeek NE, Kleefstra T, Brilstra EH, Vlaskamp DRM. Buijsse N, et al. Among authors: ockeloen cw. Epilepsia Open. 2023 Dec;8(4):1300-1313. doi: 10.1002/epi4.12799. Epub 2023 Aug 18. Epilepsia Open. 2023. PMID: 37501353 Free PMC article.
OBJECTIVE: The aim of this study was to describe the epilepsy phenotype in a large international cohort of patients with KBG syndrome and to study a possible genotype-phenotype correlation. METHODS: We collected data on patients with ANKRD11 variants by contacting Universi …
OBJECTIVE: The aim of this study was to describe the epilepsy phenotype in a large international cohort of patients with KBG syndrome …
Exploring the behavioral and cognitive phenotype of KBG syndrome.
van Dongen LCM, Wingbermühle E, van der Veld WM, Vermeulen K, Bos-Roubos AG, Ockeloen CW, Kleefstra T, Egger JIM. van Dongen LCM, et al. Among authors: ockeloen cw. Genes Brain Behav. 2019 Apr;18(4):e12553. doi: 10.1111/gbb.12553. Epub 2019 Feb 21. Genes Brain Behav. 2019. PMID: 30786142 Free PMC article.
In this study, the behavioral and cognitive profile of KBG syndrome will be investigated in order to examine if and how cognitive deficits contribute to behavioral difficulties. ...In contrast, the KBG syndrome group demonstrated higher scores on visual memory, soci …
In this study, the behavioral and cognitive profile of KBG syndrome will be investigated in order to examine if and how cognitive def …
Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study.
van Dongen LCM, Wingbermühle E, Oomens W, Bos-Roubos AG, Ockeloen CW, Kleefstra T, Egger JIM. van Dongen LCM, et al. Among authors: ockeloen cw. Front Behav Neurosci. 2017 Dec 19;11:248. doi: 10.3389/fnbeh.2017.00248. eCollection 2017. Front Behav Neurosci. 2017. PMID: 29311865 Free PMC article.
KBG syndrome is a neurodevelopmental disorder (NDD) caused by loss-of-function of the ANKRD11 gene. ...Hence, behavioral problems associated with KBG syndrome cannot directly be related to or explained by a specific intelligence profile. ...
KBG syndrome is a neurodevelopmental disorder (NDD) caused by loss-of-function of the ANKRD11 gene. ...Hence, behavioral problems ass …
Life Beyond Childhood: Insight Into the Lived Experience of 91 Adults With KBG Syndrome Through an Online Patient/Caregiver-Reported Co-Produced Questionnaire.
Low KJ, Walker M, Treneman-Evans G, Bramswig NC, Herlin MK, Lesca G, Scarano E, Ockeloen CW, Bayat A. Low KJ, et al. Among authors: ockeloen cw. Brain Behav. 2025 May;15(5):e70553. doi: 10.1002/brb3.70553. Brain Behav. 2025. PMID: 40350717 Free PMC article.
PURPOSE: KBG syndrome (KBGS) is a rare neurodevelopmental syndrome. We aimed to study the impact of KBGS in adulthood as reported by individuals with KBGS and their families/caregivers, thereby exploring aspects of everyday life underreported by healthcare professionals. M …
PURPOSE: KBG syndrome (KBGS) is a rare neurodevelopmental syndrome. We aimed to study the impact of KBGS in adulthood as reported by …
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
de Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, Kini U, Lasa-Aranzasti A, Lesca G, Lynch SA, Mathijssen IMJ, McGowan R, Monaghan KG, Odent S, Pfundt R, Putoux A, van Reeuwijk J, Santen GWE, Sasaki E, Sorlin A, van der Spek PJ, Stegmann APA, Swagemakers SMA, Valenzuela I, Viora-Dupont E, Vitobello A, Ware SM, Wéber M, Gilissen C, Low KJ, Fisher SE, Vissers LELM, Wong MMK, Kleefstra T. de Boer E, et al. Among authors: ockeloen cw. Genet Med. 2022 Oct;24(10):2051-2064. doi: 10.1016/j.gim.2022.06.007. Epub 2022 Jul 14. Genet Med. 2022. PMID: 35833929 Free article.
METHODS: We collected clinical information of individuals with ANKRD11 missense variants and evaluated phenotypic fit to KBG syndrome. We assessed pathogenicity of variants through in silico analyses and cell-based experiments. RESULTS: We identified 20 unique, mostly de n …
METHODS: We collected clinical information of individuals with ANKRD11 missense variants and evaluated phenotypic fit to KBG syndrome …
A Growth Chart for KBG Syndrome.
Low KJ, Martinez-Cayuelas E, Almoguera B, Marin-Reina P, Bayat A, Ockeloen CW, Cole TJ. Low KJ, et al. Among authors: ockeloen cw. Am J Med Genet A. 2026 Jan 16. doi: 10.1002/ajmga.70054. Online ahead of print. Am J Med Genet A. 2026. PMID: 41543387 No abstract available.
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
Ockeloen CW, Willemsen MH, de Munnik S, van Bon BW, de Leeuw N, Verrips A, Kant SG, Jones EA, Brunner HG, van Loon RL, Smeets EE, van Haelst MM, van Haaften G, Nordgren A, Malmgren H, Grigelioniene G, Vermeer S, Louro P, Ramos L, Maal TJ, van Heumen CC, Yntema HG, Carels CE, Kleefstra T. Ockeloen CW, et al. Eur J Hum Genet. 2015 Sep;23(9):1176-85. doi: 10.1038/ejhg.2014.253. Epub 2014 Nov 26. Eur J Hum Genet. 2015. PMID: 25424714 Free PMC article.
Loss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specific dental, neurobehavioural, craniofacial and skeletal anomalies. We present the largest cohort of KBG syndrome cases confirmed by ANKRD11 va …
Loss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specific denta …
14 results