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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, Watson CJ, Faundes V, Duffourd Y, Lee P, Simon MC, de la Cruz X, Padilla N, Flores-Mendez M, Akizu N, Smiler J, Pellegrino Da Silva R, Li D, March M, Diaz-Rosado A, Peixoto de Barcelos I, Choa ZX, Lim CY, Dubourg C, Journel H, Demurger F, Mulhern M, Akman C, Lippa N, Andrews M, Baldridge D, Constantino J, van Haeringen A, Snoeck-Streef I, Chow P, Hing A, Graham JM Jr, Au M, Faivre L, Shen W, Mao R, Palumbos J, Viskochil D, Gahl W, Tifft C, Macnamara E, Hauser N, Miller R, Maffeo J, Afenjar A, Doummar D, Keren B, Arn P, Macklin-Mantia S, Meerschaut I, Callewaert B, Reis A, Zweier C, Brewer C, Saggar A, Smeland MF, Kumar A, Elmslie F, Deshpande C, Nizon M, Cogne B, van Ierland Y, Wilke M, van Slegtenhorst M, Koudijs S, Chen JY, Dredge D, Pier D, Wortmann S, Kamsteeg EJ, Koch J, Haynes D, Pollack L, Titheradge H, Ranguin K, Denommé-Pichon AS, Weber S, Pérez de la Fuente R, Sánchez Del Pozo J, Lezana Rosales JM, Joset P, Steindl K, Rauch A, Mei D, Mari F, Guerrini R, Lespinasse J, Tran Mau-Them F, Philippe C, Dauriat B, Raymond L, Moutton S, Cueto-González AM, Tan TY, Mignot C, Grotto S, Renaldo F, … See abstract for full author list ➔ Sheppard SE, et al. Sci Adv. 2023 Mar 10;9(10):eade1463. doi: 10.1126/sciadv.ade1463. Epub 2023 Mar 10. Sci Adv. 2023. PMID: 36897941 Free PMC article.
Pathogenic variants in KMT5B, a lysine methyltransferase, are associated with global developmental delay, macrocephaly, autism, and congenital anomalies (OMIM# 617788). ...RNA sequencing of patient lymphoblasts and Kmt5b haploinsufficient mouse brains identified dif …
Pathogenic variants in KMT5B, a lysine methyltransferase, are associated with global developmental delay, macrocephaly, autism, and c …
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjöld M, Schenck A, Bernier RA, Eichler EE. Stessman HA, et al. Nat Genet. 2017 Apr;49(4):515-526. doi: 10.1038/ng.3792. Epub 2017 Feb 13. Nat Genet. 2017. PMID: 28191889 Free PMC article.
We identified 25 genes showing a bias for autism versus intellectual disability and highlighted a network associated with high-functioning autism (full-scale IQ >100). Clinical follow-up for NAA15, KMT5B, and ASH1L highlighted new syndromic and nonsyndromic forms of dis …
We identified 25 genes showing a bias for autism versus intellectual disability and highlighted a network associated with high-functioning a …
KMT5B is required for early motor development.
Hulen J, Kenny D, Black R, Hallgren J, Hammond KG, Bredahl EC, Wickramasekara RN, Abel PW, Stessman HAF. Hulen J, et al. Front Genet. 2022 Aug 12;13:901228. doi: 10.3389/fgene.2022.901228. eCollection 2022. Front Genet. 2022. PMID: 36035149 Free PMC article.
Disruptive variants in lysine methyl transferase 5B (KMT5B/SUV4-20H1) have been identified as likely-pathogenic among humans with neurodevelopmental phenotypes including motor deficits (i.e., hypotonia and motor delay). However, the role that this enzyme plays in early mot …
Disruptive variants in lysine methyl transferase 5B (KMT5B/SUV4-20H1) have been identified as likely-pathogenic among humans with neu …
Autism genes converge on asynchronous development of shared neuron classes.
Paulsen B, Velasco S, Kedaigle AJ, Pigoni M, Quadrato G, Deo AJ, Adiconis X, Uzquiano A, Sartore R, Yang SM, Simmons SK, Symvoulidis P, Kim K, Tsafou K, Podury A, Abbate C, Tucewicz A, Smith SN, Albanese A, Barrett L, Sanjana NE, Shi X, Chung K, Lage K, Boyden ES, Regev A, Levin JZ, Arlotta P. Paulsen B, et al. Nature. 2022 Feb;602(7896):268-273. doi: 10.1038/s41586-021-04358-6. Epub 2022 Feb 2. Nature. 2022. PMID: 35110736 Free PMC article.
Here we used organoid models of the human cerebral cortex to identify cell-type-specific developmental abnormalities that result from haploinsufficiency in three ASD risk genes-SUV420H1 (also known as KMT5B), ARID1B and CHD8-in multiple cell lines from different donors, us …
Here we used organoid models of the human cerebral cortex to identify cell-type-specific developmental abnormalities that result from haploi …
Mutant p53 confers chemoresistance by activating KMT5B-mediated DNA repair pathway in nasopharyngeal carcinoma.
Luo H, Huang MF, Xu A, Wang D, Gingold JA, Tu J, Wang R, Huo Z, Chiang YT, Tsai KL, Su J, Bazer DA, Hung MC, Xie C, Guo Y, Lee DF, Yang H, Zhao R. Luo H, et al. Cancer Lett. 2025 Aug 10;625:217736. doi: 10.1016/j.canlet.2025.217736. Epub 2025 Apr 30. Cancer Lett. 2025. PMID: 40316196
Here, we demonstrate that p53(R280T), a common p53 somatic mutation found in multiple NPC tumor samples, induces gain-of-function upregulation of DNA repair genes which leads to 5-FU resistance in NPC. p53(R280T) specifically upregulates the expression of DNA repair-associated ge …
Here, we demonstrate that p53(R280T), a common p53 somatic mutation found in multiple NPC tumor samples, induces gain-of-function upregulati …
Loss-of-function of KMT5B leads to neurodevelopmental disorder and impairs neuronal development and neurogenesis.
Chen G, Han L, Tan S, Jia X, Wu H, Quan Y, Zhang Q, Yu B, Hu Z, Xia K, Guo H. Chen G, et al. J Genet Genomics. 2022 Sep;49(9):881-890. doi: 10.1016/j.jgg.2022.03.004. Epub 2022 Mar 21. J Genet Genomics. 2022. PMID: 35331928
Recent studies show that the variants of a histone methyltransferase gene KMT5B cause neurodevelopmental disorders (NDDs), including ASD, and the knockout of Kmt5b in mice is embryonic lethal. ...In vitro knockdown of the expression of Kmt5b in cultured mouse …
Recent studies show that the variants of a histone methyltransferase gene KMT5B cause neurodevelopmental disorders (NDDs), including …
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
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. Faundes V, et al. Am J Hum Genet. 2018 Jan 4;102(1):175-187. doi: 10.1016/j.ajhg.2017.11.013. Epub 2017 Dec 21. Am J Hum Genet. 2018. PMID: 29276005 Free PMC article.
We provide evidence to firmly associate KMT2C, ASH1L, and KMT5B haploinsufficiency with dominant developmental disorders. Whereas KMT2C or ASH1L haploinsufficiency results in a predominantly neurodevelopmental phenotype with occasional physical anomalies, KMT5B muta …
We provide evidence to firmly associate KMT2C, ASH1L, and KMT5B haploinsufficiency with dominant developmental disorders. Whereas KMT …
Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay.
Eliyahu A, Barel O, Greenbaum L, Zaks Hoffer G, Goldberg Y, Raas-Rothschild A, Singer A, Bar-Joseph I, Kunik V, Javasky E, Staretz-Chacham O, Pode-Shakked N, Bazak L, Ruhrman-Shahar N, Pras E, Frydman M, Shohat M, Pode-Shakked B. Eliyahu A, et al. Front Pediatr. 2022 Mar 30;10:844845. doi: 10.3389/fped.2022.844845. eCollection 2022. Front Pediatr. 2022. PMID: 35433545 Free PMC article.
Recently, deleterious heterozygous variants in KMT5B were implicated in individuals with intellectual disability (ID) and/or autism spectrum disorder. ...Furthermore, using a three-dimensional computational model of the KMT5B protein, we demonstrate the predicted st …
Recently, deleterious heterozygous variants in KMT5B were implicated in individuals with intellectual disability (ID) and/or autism s …
Novel KMT5B variant associated with neurodevelopmental disorder in a Chinese family: A case report.
Tong J, Chen X, Wang X, Men S, Liu Y, Sun X, Yan D, Wang L. Tong J, et al. Heliyon. 2024 Mar 23;10(7):e28686. doi: 10.1016/j.heliyon.2024.e28686. eCollection 2024 Apr 15. Heliyon. 2024. PMID: 38571636 Free PMC article.
BACKGROUND: We report here the clinical and genetic features of KMT5B-related neurodevelopmental disorder caused by a novel heterozygous frameshift variant in KMT5B in a Chinese family. ...CONCLUSIONS: Our investigation expands the mutation spectrum of KMT5B …
BACKGROUND: We report here the clinical and genetic features of KMT5B-related neurodevelopmental disorder caused by a novel heterozyg …
Differential effects by sex with Kmt5b loss.
Wickramasekara RN, Robertson B, Hulen J, Hallgren J, Stessman HAF. Wickramasekara RN, et al. Autism Res. 2021 Aug;14(8):1554-1571. doi: 10.1002/aur.2516. Epub 2021 Apr 19. Autism Res. 2021. PMID: 33871180 Free PMC article.
Lysine methyl transferase 5B (KMT5B) has been recently highlighted as a risk gene in genetic studies of neurodevelopmental disorders (NDDs), specifically, autism spectrum disorder (ASD) and intellectual disability (ID); yet, its role in the brain is not known. The goal of …
Lysine methyl transferase 5B (KMT5B) has been recently highlighted as a risk gene in genetic studies of neurodevelopmental disorders …
54 results