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EHMT2 alterations cause a Kleefstra-like syndrome

We report clinical and molecular correlates associated with six de novo EHMT2 variants identified in patients presenting with a Kleefstra syndrome–like phenotype. Transcriptomic profiling of patient-derived fibroblasts and induced pluripotent stem cells (iPSCs) reveals shared gene expression signatures between EHMT2 variant carriers and Kleefstra syndrome, compared with cell lines derived from healthy donors.

Type: Transcriptome Analysis
Archive: European Genome-phenome Archive (EGA)

2 Datasets 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD50000002343	This dataset contains FASTQ files from RNA sequencing (RNA-seq) of fibroblasts derived from a healthy donor (control), a patient with Kleefstra syndrome (KSP), and a patient carrying a pathogenic variant in EHMT2 (P2). Ribosomal RNA was removed using an RNase H–based depletion method, and strand-specific libraries were prepared for paired-end sequencing on the MGI DNBSEQ PE100 platform.	unspecified	3
EGAD50000002344	This dataset contains FASTQ files from RNA sequencing (RNA-seq) of induced pluripotent stem cells (iPSCs) derived from a healthy donor (control), a patient with Kleefstra syndrome (KSP), and two patients carrying pathogenic variants in EHMT2 (P1 and P2). Poly(A)-selected RNA was used for library preparation, and strand-specific libraries were generated for paired-end sequencing on the MGI DNBSEQ PE100 platform.	unspecified	4

Publications	Citations
De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity. Hnízda A, Martinez-Delgado B, Sanchez-Ponce D, Alonso J, Amiel J, Attie-Bitach T, Bada-Navarro A, Baladron B, Bermejo-Sanchez E, Brinsa V, Buková I, Cazorla-Calleja R, Červenková S, Chow S, Dušek P, Fedosieieva O, Fernandez-Prieto M, Ghosh S, Gomez-Mariano G, Gřegořová A, Hamilton MJ, Hartmannová H, Hernandez-SanMiguel E, Herrero-Matesanz M, Hodaňová K, Kádek A, Kerkhof J, Kleefstra T, Lacombe D, Levy MA, Lopez-Martin E, Lyse R, Man P, Marin-Reina P, Macnamara EF, McConkey H, Melenovská P, Mielu LM, Moore D, Steiner Mrázová L, Musilová K, Neffeová K, Nickl P, Pajuelo Reguera D, Pavlíková M, Pavlovičová L, Posada M, Procházka J, Pysanenko K, Ramos Del Saz S, Rots D, Rzasa J, Sedláček R, Stránecký V, Špoutil F, Tedder ML, Thompson L, Tifft CJ, Tran Mau-Them F, Trešlová H, Vitobello A, Hilton S, Campbell C, Banka S, Jirák D, Sadikovic B, Sikora J, Kmoch S, Barrero MJ, Nosková L. Nat Commun 17: 2026 8203	1

Publications

Citations

De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.
Hnízda A, Martinez-Delgado B, Sanchez-Ponce D, Alonso J, Amiel J, Attie-Bitach T, Bada-Navarro A, Baladron B, Bermejo-Sanchez E, Brinsa V, Buková I, Cazorla-Calleja R, Červenková S, Chow S, Dušek P, Fedosieieva O, Fernandez-Prieto M, Ghosh S, Gomez-Mariano G, Gřegořová A, Hamilton MJ, Hartmannová H, Hernandez-SanMiguel E, Herrero-Matesanz M, Hodaňová K, Kádek A, Kerkhof J, Kleefstra T, Lacombe D, Levy MA, Lopez-Martin E, Lyse R, Man P, Marin-Reina P, Macnamara EF, McConkey H, Melenovská P, Mielu LM, Moore D, Steiner Mrázová L, Musilová K, Neffeová K, Nickl P, Pajuelo Reguera D, Pavlíková M, Pavlovičová L, Posada M, Procházka J, Pysanenko K, Ramos Del Saz S, Rots D, Rzasa J, Sedláček R, Stránecký V, Špoutil F, Tedder ML, Thompson L, Tifft CJ, Tran Mau-Them F, Trešlová H, Vitobello A, Hilton S, Campbell C, Banka S, Jirák D, Sadikovic B, Sikora J, Kmoch S, Barrero MJ, Nosková L. Nat Commun 17: 2026 8203