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Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Rots D, Choufani S, Faundes V, Dingemans AJM, Joss S, Foulds N, Jones EA, Stewart S, Vasudevan P, Dabir T, Park SM, Jewell R, Brown N, Pais L, Jacquemont S, Jizi K, Ravenswaaij-Arts CMAV, Kroes HY, Stumpel CTRM, Ockeloen CW, Diets IJ, Nizon M, Vincent M, Cogné B, Besnard T, Kambouris M, Anderson E, Zackai EH, McDougall C, Donoghue S, O'Donnell-Luria A, Valivullah Z, O'Leary M, Srivastava S, Byers H, Leslie N, Mazzola S, Tiller GE, Vera M, Shen JJ, Boles R, Jain V, Brischoux-Boucher E, Kinning E, Simpson BN, Giltay JC, Harris J, Keren B, Guimier A, Marijon P, Vries BBA, Motter CS, Mendelsohn BA, Coffino S, Gerkes EH, Afenjar A, Visconti P, Bacchelli E, Maestrini E, Delahaye-Duriez A, Gooch C, Hendriks Y, Adams H, Thauvin-Robinet C, Josephi-Taylor S, Bertoli M, Parker MJ, Rutten JW, Caluseriu O, Vernon HJ, Kaziyev J, Zhu J, Kremen J, Frazier Z, Osika H, Breault D, Nair S, Lewis SME, Ceroni F, Viggiano M, Posar A, Brittain H, Giovanna T, Giulia G, Quteineh L, Ha-Vinh Leuchter R, Zonneveld-Huijssoon E, Mellado C, Marey I, Coudert A, Aracena Alvarez MI, Kennis MGP, Bouman A, Roifman M, Amorós Rodríguez MI, Ortigoza-Escobar JD, Vernimmen V, Sinnema M, Pfundt R, Brunner HG, Vissers LELM,… See abstract for full author list ➔ Rots D, et al. Am J Hum Genet. 2024 Aug 8;111(8):1626-1642. doi: 10.1016/j.ajhg.2024.06.009. Epub 2024 Jul 15. Am J Hum Genet. 2024. PMID: 39013459 Free PMC article.
Haploinsufficiency of KMT2C was only recently recognized as a cause of neurodevelopmental disorder (NDD), so the clinical and molecular spectrums of the KMT2C-related NDD (now designated as Kleefstra syndrome 2) are largely unknown. We ascertained 98 individuals wit …
Haploinsufficiency of KMT2C was only recently recognized as a cause of neurodevelopmental disorder (NDD), so the clinical and molecular spec …
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
Rots D, Bouman A, Yamada A, Levy M, Dingemans AJM, de Vries BBA, Ruiterkamp-Versteeg M, de Leeuw N, Ockeloen CW, Pfundt R, de Boer E, Kummeling J, van Bon B, van Bokhoven H, Kasri NN, Venselaar H, Alders M, Kerkhof J, McConkey H, Kuechler A, Elffers B, van Beeck Calkoen R, Hofman S, Smith A, Valenzuela MI, Srivastava S, Frazier Z, Maystadt I, Piscopo C, Merla G, Balasubramanian M, Santen GWE, Metcalfe K, Park SM, Pasquier L, Banka S, Donnai D, Weisberg D, Strobl-Wildemann G, Wagemans A, Vreeburg M, Baralle D, Foulds N, Scurr I, Brunetti-Pierri N, van Hagen JM, Bijlsma EK, Hakonen AH, Courage C, Genevieve D, Pinson L, Forzano F, Deshpande C, Kluskens ML, Welling L, Plomp AS, Vanhoutte EK, Kalsner L, Hol JA, Putoux A, Lazier J, Vasudevan P, Ames E, O'Shea J, Lederer D, Fleischer J, O'Connor M, Pauly M, Vasileiou G, Reis A, Kiraly-Borri C, Bouman A, Barnett C, Nezarati M, Borch L, Beunders G, Özcan K, Miot S, Volker-Touw CML, van Gassen KLI, Cappuccio G, Janssens K, Mor N, Shomer I, Dominissini D, Tedder ML, Muir AM, Sadikovic B, Brunner HG, Vissers LELM, Shinkai Y, Kleefstra T. Rots D, et al. Am J Hum Genet. 2024 Aug 8;111(8):1605-1625. doi: 10.1016/j.ajhg.2024.06.008. Epub 2024 Jul 15. Am J Hum Genet. 2024. PMID: 39013458 Free PMC article.
The shift to a genotype-first approach in genetic diagnostics has revolutionized our understanding of neurodevelopmental disorders, expanding both their molecular and phenotypic spectra. Kleefstra syndrome (KLEFS1) is caused by EHMT1 haploinsufficiency and exhibits …
The shift to a genotype-first approach in genetic diagnostics has revolutionized our understanding of neurodevelopmental disorders, expandin …
Kleefstra Syndrome.
Aydin H, Bucak IH, Bagis H. Aydin H, et al. J Coll Physicians Surg Pak. 2022 Apr;32(4):S76-S78. doi: 10.29271/jcpsp.2022.Supp1.S76. J Coll Physicians Surg Pak. 2022. PMID: 35633020
Kleefstra syndrome (KS), previously referred to as 9q subtelomeric deletion syndrome (9qSTDS), is characterised by moderate to severe developmental delay/mental retardation, childhood hypotonia, and brachy-microcephaly (main clinical phenotype), midface hypoplasia, …
Kleefstra syndrome (KS), previously referred to as 9q subtelomeric deletion syndrome (9qSTDS), is characterised by moderate to …
Human Genetics of Ventricular Septal Defect.
Perrot A, Rickert-Sperling S. Perrot A, et al. Adv Exp Med Biol. 2024;1441:505-534. doi: 10.1007/978-3-031-44087-8_27. Adv Exp Med Biol. 2024. PMID: 38884729
Soma-to-germline transformation in chromatin-linked neurodevelopmental disorders?
Bonefas KM, Iwase S. Bonefas KM, et al. FEBS J. 2022 Apr;289(8):2301-2317. doi: 10.1111/febs.16196. Epub 2021 Oct 8. FEBS J. 2022. PMID: 34514717 Free PMC article. Review.
Such ectopic germline gene expression has been reported in several NDDs, including immunodeficiency, centromeric instability, facial anomalies syndrome 1; Kleefstra syndrome 1; MeCP2 duplication syndrome; and mental retardation, X-linked syndromic, Claes-Jensen type …
Such ectopic germline gene expression has been reported in several NDDs, including immunodeficiency, centromeric instability, facial anomali …
Epigenetic Etiology of Intellectual Disability.
Iwase S, Bérubé NG, Zhou Z, Kasri NN, Battaglioli E, Scandaglia M, Barco A. Iwase S, et al. J Neurosci. 2017 Nov 8;37(45):10773-10782. doi: 10.1523/JNEUROSCI.1840-17.2017. J Neurosci. 2017. PMID: 29118205 Free PMC article. Review.
Psychosis and autism without functional regression in a patient with Kleefstra syndrome.
Colijn MA, Lakusta CM, Marcadier JL. Colijn MA, et al. Psychiatr Genet. 2023 Feb 1;33(1):34-36. doi: 10.1097/YPG.0000000000000330. Epub 2022 Dec 1. Psychiatr Genet. 2023. PMID: 36617745 Review.
Kleefstra syndrome is a rare genetic disorder caused by haploinsufficiency of the euchromatic histone lysine methyltransferase 1 (EHMT1) gene. ...As such, in this brief report, we review the literature with respect to the occurrence of psychosis in Kleefstra …
Kleefstra syndrome is a rare genetic disorder caused by haploinsufficiency of the euchromatic histone lysine methyltransferase …
Clinical characteristics and genetic analysis of four pediatric patients with Kleefstra syndrome.
Ren R, Liu Y, Liu P, Zhao J, Hou M, Li S, Chen Z, Yuan A. Ren R, et al. BMC Med Genomics. 2024 Dec 18;17(1):290. doi: 10.1186/s12920-024-02065-5. BMC Med Genomics. 2024. PMID: 39696517 Free PMC article.
BACKGROUND: Kleefstra syndrome spectrum (KLEFS) is an autosomal dominant disorder that can lead to intellectual disability and autism spectrum disorders. KLEFS encompasses Kleefstra syndrome-1 (KLEFS1) and Kleefstra syndrome-2 (KLEFS2), w …
BACKGROUND: Kleefstra syndrome spectrum (KLEFS) is an autosomal dominant disorder that can lead to intellectual disability and …
Kleefstra syndrome: Impact on parents.
Haseley A, Wallis K, DeBrosse S. Haseley A, et al. Disabil Health J. 2021 Apr;14(2):101018. doi: 10.1016/j.dhjo.2020.101018. Epub 2020 Nov 5. Disabil Health J. 2021. PMID: 33189624
BACKGROUND: Kleefstra syndrome (KS) is associated with developmental delay, autism, intellectual disability, psychosis, and regression. ...
BACKGROUND: Kleefstra syndrome (KS) is associated with developmental delay, autism, intellectual disability, psychosis, and re …
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.
Morison LD, Kennis MGP, Rots D, Bouman A, Kummeling J, Palmer E, Vogel AP, Liegeois F, Brignell A, Srivastava S, Frazier Z, Milnes D, Goel H, Amor DJ, Scheffer IE, Kleefstra T, Morgan AT. Morison LD, et al. J Med Genet. 2024 May 21;61(6):578-585. doi: 10.1136/jmg-2023-109702. J Med Genet. 2024. PMID: 38290825 Free PMC article.
OBJECTIVES: Speech and language impairments are core features of the neurodevelopmental genetic condition Kleefstra syndrome. Communication has not been systematically examined to guide intervention recommendations. We define the speech, language and cognitive pheno …
OBJECTIVES: Speech and language impairments are core features of the neurodevelopmental genetic condition Kleefstra syndrome. …
80 results