Publications

Novel Variants in KMT2C Further Support a Neurodevelopmental Disorder Distinct From Kleefstra and Kabuki Syndromes. 

Sedláčková L, Brožková DŠ, Havlovicová M, Laššuthová P. Novel Variants in KMT2C Further Support a Neurodevelopmental Disorder Distinct From Kleefstra and Kabuki Syndromes. Mol Genet Genomic Med. 2026 Apr;14(4):e70209. doi: 10.1002/mgg3.70209. PMID: 41914216; PMCID: PMC13140550. 

Long term follow-up of multiorgan disease in Kleefstra syndrome 2 in an adult – case report. 

Chen Z, Kwek JL, Lim RS, Yong YR, Loh AHL, Lim WK, Teo JX, Tay KSS, Ng PS. Long term follow-up of multiorgan disease in Kleefstra syndrome 2 in an adult – case report. BMC Neurol. 2025;25:199. Published May 6, 2025. doi:10.1186/s12883-025-04210-8.

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. Clinical characteristics and genetic analysis of four pediatric patients with Kleefstra syndrome. BMC Med Genomics. 2024;17:290. Published December 18, 2024. doi:10.1186/s12920-024-02065-5.

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, Kleefstra T, Weksberg R, Banka S. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes. Am J Hum Genet. 2024 Aug 8;111(8):1626-1642. doi: 10.1016/j.ajhg.2024.06.009. Epub 2024 Jul 15. PMID: 39013459; PMCID: PMC11339626. 

Novel germline variants in KMT2C in Chinese patients with Kleefstra syndrome-2. 

Yang Q, Zhang Q, Yi S, Zhang S, Yi S, Zhou X, Qin Z, Chen B, Luo J. Novel germline variants in KMT2C in Chinese patients with Kleefstra syndrome-2. Front Neurol. 2024 Jan 31;15:1340458. doi: 10.3389/fneur.2024.1340458. PMID: 38356881; PMCID: PMC10864639. 

KMT2A-D pathogenicity, prevalence, and variation according to a population database. 

Larson JK, Hunter-Schlichting DN, Crowgey EL, Mills LJ, Druley TE, Marcotte EL. KMT2A-D pathogenicity, prevalence, and variation according to a population database. Cancer Med. 2023 Mar;12(6):7234-7245. doi: 10.1002/cam4.5443. Epub 2022 Dec 8. PMID: 36479909; PMCID: PMC10067056. 

De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review. 

Siano MA, De Maggio I, Petillo R, Cocciadiferro D, Agolini E, Majolo M, Novelli A, Della Monica M, Piscopo C. De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review. Pediatr Rep. 2022 Mar 11;14(1):131-139. doi: 10.3390/pediatric14010019. PMID: 35324822; PMCID: PMC8954887. 

Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study; Deciphering Developmental Disorders (DDD) Study. 

Faundes V, Newman WG, Bernardini L, Canham N, Clayton-Smith J, Dallapiccola B, Davies SJ, Demos MK, Goldman A, Gill H, Horton R, Kerr B, Kumar D, Lehman A, McKee S, Morton J, Parker MJ, Rankin J, Robertson L, Temple IK; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study; Deciphering Developmental Disorders (DDD) Study; Banka S. Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. Am J Hum Genet. 2018 Jan 4;102(1):175-187. doi: 10.1016/j.ajhg.2017.11.013. Epub 2017 Dec 21. PMID: 29276005; PMCID: PMC5778085. 

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder. 

Koemans TS, Kleefstra T, Chubak MC, Stone MH, Reijnders MRF, de Munnik S, Willemsen MH, Fenckova M, Stumpel CTRM, Bok LA, Sifuentes Saenz M, Byerly KA, Baughn LB, Stegmann APA, Pfundt R, Zhou H, van Bokhoven H, Schenck A, Kramer JM. Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder. PLoS Genet. 2017 Oct 25;13(10):e1006864. doi: 10.1371/journal.pgen.1006864. PMID: 29069077; PMCID: PMC5656305. 

Mll3 and Mll4 Facilitate Enhancer RNA Synthesis and Transcription from Promoters Independently of H3K4 Monomethylation. 

Dorighi KM, Swigut T, Henriques T, Bhanu NV, Scruggs BS, Nady N, Still CD 2nd, Garcia BA, Adelman K, Wysocka J. Mll3 and Mll4 Facilitate Enhancer RNA Synthesis and Transcription from Promoters Independently of H3K4 Monomethylation. Mol Cell. 2017 May 18;66(4):568-576.e4. doi: 10.1016/j.molcel.2017.04.018. Epub 2017 May 5. PMID: 28483418; PMCID: PMC5662137. 

Synaptic, transcriptional and chromatin genes disrupted in autism. 

De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Hill RS, Ionita-Laza J, Jimenz Gonzalez P, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei I, Lei J, Lehtimäki T, Lin CF, Ma'ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnström K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Rüther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Li-San W, Weiss LA, Willsey AJ, Yu TW, Yuen RK; DDD Study; Homozygosity Mapping Collaborative for Autism; UK10K Consortium; Cook EH, Freitag CM, Gill M, Hultman CM, Lehner T, Palotie A, Schellenberg GD, Sklar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ, Buxbaum JD. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 2014 Nov 13;515(7526):209-15. doi: 10.1038/nature13772. Epub 2014 Oct 29. PMID: 25363760; PMCID: PMC4402723. PMID: 39013459; PMCID: PMC11339626. 

H3K4 mono- and di-methyltransferase MLL4 is required for enhancer activation during cell differentiation. 

Lee JE, Wang C, Xu S, Cho YW, Wang L, Feng X, Baldridge A, Sartorelli V, Zhuang L, Peng W, Ge K. H3K4 mono- and di-methyltransferase MLL4 is required for enhancer activation during cell differentiation. Elife. 2013 Dec 24;2:e01503. doi: 10.7554/eLife.01503. PMID: 24368734; PMCID: PMC3869375. 

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. 

Kleefstra T, Kramer JM, Neveling K, Willemsen MH, Koemans TS, Vissers LE, Wissink-Lindhout W, Fenckova M, van den Akker WM, Kasri NN, Nillesen WM, Prescott T, Clark RD, Devriendt K, van Reeuwijk J, de Brouwer AP, Gilissen C, Zhou H, Brunner HG, Veltman JA, Schenck A, van Bokhoven H. Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. Am J Hum Genet. 2012 Jul 13;91(1):73-82. doi: 10.1016/j.ajhg.2012.05.003. Epub 2012 Jun 21. PMID: 22726846; PMCID: PMC3397275. 

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