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

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DOI
10.1038/s41467-026-74987-w
Published
2026 Jul 1
Container
Nature communications
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1038/s41467-026-74987-w,
  title = {De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.},
  author = {Hnízda A and Martinez-Delgado B and Sanchez-Ponce D and Alonso J and Amiel J and Attie-Bitach T and Bada-Navarro A and Baladron B and Bermejo-Sanchez E and Brinsa V and Buková I and Cazorla-Calleja R and Červenková S and Chow S and Dušek P and Fedosieieva O and Fernandez-Prieto M and Ghosh S and Gomez-Mariano G and Gřegořová A and Hamilton MJ and Hartmannová H and Hernandez-SanMiguel E and Herrero-Matesanz M and Hodaňová K and Kádek A and Kerkhof J and Kleefstra T and Lacombe D and Levy MA and Lopez-Martin E and Lyse R and Man P and Marin-Reina P and Macnamara EF and McConkey H and Melenovská P and Mielu LM and Moore D and Steiner Mrázová L and Musilová K and Neffeová K and Nickl P and Pajuelo Reguera D and Pavlíková M and Pavlovičová L and Posada M and Procházka J and Pysanenko K and Ramos Del Saz S and Rots D and Rzasa J and Sedláček R and Stránecký V and Špoutil F and Tedder ML and Thompson L and Tifft CJ and Tran Mau-Them F and Trešlová H and Vitobello A and Hilton S and Campbell C and Banka S and Jirák D and Sadikovic B and Sikora J and Kmoch S and Barrero MJ and Nosková L},
  year = {2026},
  journal = {Nature communications},
  doi = {10.1038/s41467-026-74987-w},
  url = {https://doi.org/10.1038/s41467-026-74987-w}
}

RIS

TY  - JOUR
TI  - De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.
AU  - Hnízda A
AU  - Martinez-Delgado B
AU  - Sanchez-Ponce D
AU  - Alonso J
AU  - Amiel J
AU  - Attie-Bitach T
AU  - Bada-Navarro A
AU  - Baladron B
AU  - Bermejo-Sanchez E
AU  - Brinsa V
AU  - Buková I
AU  - Cazorla-Calleja R
AU  - Červenková S
AU  - Chow S
AU  - Dušek P
AU  - Fedosieieva O
AU  - Fernandez-Prieto M
AU  - Ghosh S
AU  - Gomez-Mariano G
AU  - Gřegořová A
AU  - Hamilton MJ
AU  - Hartmannová H
AU  - Hernandez-SanMiguel E
AU  - Herrero-Matesanz M
AU  - Hodaňová K
AU  - Kádek A
AU  - Kerkhof J
AU  - Kleefstra T
AU  - Lacombe D
AU  - Levy MA
AU  - Lopez-Martin E
AU  - Lyse R
AU  - Man P
AU  - Marin-Reina P
AU  - Macnamara EF
AU  - McConkey H
AU  - Melenovská P
AU  - Mielu LM
AU  - Moore D
AU  - Steiner Mrázová L
AU  - Musilová K
AU  - Neffeová K
AU  - Nickl P
AU  - Pajuelo Reguera D
AU  - Pavlíková M
AU  - Pavlovičová L
AU  - Posada M
AU  - Procházka J
AU  - Pysanenko K
AU  - Ramos Del Saz S
AU  - Rots D
AU  - Rzasa J
AU  - Sedláček R
AU  - Stránecký V
AU  - Špoutil F
AU  - Tedder ML
AU  - Thompson L
AU  - Tifft CJ
AU  - Tran Mau-Them F
AU  - Trešlová H
AU  - Vitobello A
AU  - Hilton S
AU  - Campbell C
AU  - Banka S
AU  - Jirák D
AU  - Sadikovic B
AU  - Sikora J
AU  - Kmoch S
AU  - Barrero MJ
AU  - Nosková L
PY  - 2026
JO  - Nature communications
DO  - 10.1038/s41467-026-74987-w
UR  - https://doi.org/10.1038/s41467-026-74987-w
ER  -

APA

A, H., B, M., D, S., J, A., J, A., T, A., A, B., B, B., E, B., V, B., I, B., R, C., S, Č., S, C., P, D., O, F., M, F., S, G., G, G., A, G., MJ, H., H, H., E, H., M, H., K, H., A, K., J, K., T, K., D, L., MA, L., E, L., R, L., P, M., P, M., EF, M., H, M., P, M., LM, M., D, M., L, S. M., K, M., K, N., P, N., D, P. R., M, P., L, P., M, P., J, P., K, P., S, R. D. S., D, R., J, R., R, S., V, S., F, Š., ML, T., L, T., CJ, T., F, T. M., H, T., A, V., S, H., C, C., S, B., D, J., B, S., J, S., S, K., MJ, B., & L, N. (2026). De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.. Nature communications. https://doi.org/10.1038/s41467-026-74987-w

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