Additional file 11 of Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia

Kloss, Manja
KARACA EREK, EZGİ
Cirak, Sebahattin
Koy, Anne
Assmann, Birgit
Thiele, Holger
Altmueller, Janine
Nuernberg, Peter
Pauls, Amande
Horn, Annette
Karakulak, Tulay
Kiening, Karl
Schulze-Rhonhof, Mira
Becker, Kerstin
Contreras, Adriana
Daimagueler, Huelya-Sevcan
Wunderlich, Gilbert
Sprute, Rosanne
Dafsari, Hormos Salimi

August 2019

Rapid progress has recently been made in the elucidation of the genetic basis of childhood-onset inh...

Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study

Carecchio M.
Invernizzi F.
Gonzalez-Latapi P.
Panteghini C.
Zorzi, Gianni
Romito L.
Leuzzi V.
Galosi S.
Reale C.
Zibordi F.
Joseph A. P.
Topf M.
Piano C.
Bentivoglio A. R. (ORCID:0000-0002-9663-095X)
Girotti, Francesco
Morana P.
Morana B.
Kurian M. A.
Garavaglia B.
Mencacci N. E.
Lubbe S. J.
Nardocci N.

January 2019

Background: Childhood-onset dystonia is often genetically determined. Recently, KMT2B variants have ...

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Meyer, E.
Carss, K. J.
Rankin, Julia
Nichols, J. M. E.
Grozeva, D.
Joseph, A. P.
Mencacci, N. E.
Papandreou, A.
Ng, J.
Barral, S.
Ngoh, A.
Ben-Pazi, H.
Willemsen, M. A.
Arkadir, D.
Barnicoat, A.
Bergman, H.
Bhate, S.
Boys, A.
Darin, N.
Foulds, N.
Gutowski, Nicholas J.
Hills, A.
Houlden, H.
Hurst, J. A.
Israel, Z.
Kaminska, M.
Limousin, P.
Lumsden, D.
McKee, S. A.
Misra, S.
Mohammed, S. S.
Nakou, V.
Nicolai, J.
Nilsson, M.
Pall, H.
Peall, K. J.
Peters, G. B.
Prabhakar, P.
Reuter, M. S.
Rump, P.
Segel, R.
Sinnema, M.
Smith, M.
Turnpenny, Peter D.
White, S. M.
Wieczorek, D.
Wiethoff, S.
Wilson, B. T.
Winter, G.
Wragg, C.
Pope, S.
Heales, S. J. H.
Morrogh, D.
Pittman, A.
Carr, L. J.
Perez-Dueñas, B.
Lin, J-P
Reis, A.
Gahl, W. A.
Toro, C.
Bhatia, K. P.
Wood, N. W.
Kamsteeg, E-J
Chong, W. K.
Gissen, P.
Topf, M.
Dale, R. C.
Chubb, J.R.
Raymond, F. L.
Kurian, M. A.

December 2016

Histone lysine methylation, mediated by mixed-lineage leukemia (MLL) proteins, is now known to be cr...

Additional file 1 of Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

Andrea Ciolfi (4021622)
Aidin Foroutan (11263717)
Alessandro Capuano (7554794)
Lucia Pedace (8263269)
Lorena Travaglini (7554791)
Simone Pizzi (8263266)
Marco Andreani (4683250)
Evelina Miele (1307871)
Federica Invernizzi (3519104)
Chiara Reale (11263720)
Celeste Panteghini (11108867)
Maria Iascone (3597656)
Marcello Niceta (4021628)
Ralitza H. Gavrilova (11263723)
Laura Schultz-Rogers (11263726)
Emanuele Agolini (9577349)
Maria Francesca Bedeschi (4526644)
Paolo Prontera (11263729)
Matteo Garibaldi (6177266)
Serena Galosi (8982170)
Vincenzo Leuzzi (500280)
Paola Soliveri (7154510)
Rory J. Olson (11263732)
Giovanna S. Zorzi (11263735)
Barbara M. Garavaglia (11263738)
Marco Tartaglia (11263741)
Bekim Sadikovic (56562)

August 2021

Additional file 1: Figure S1. Chromatograms showing the KMT2B variants identified in the 18 patients...

Additional file 7 of Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

Andrea Ciolfi (4021622)
Aidin Foroutan (11263717)
Alessandro Capuano (7554794)
Lucia Pedace (8263269)
Lorena Travaglini (7554791)
Simone Pizzi (8263266)
Marco Andreani (4683250)
Evelina Miele (1307871)
Federica Invernizzi (3519104)
Chiara Reale (11263720)
Celeste Panteghini (11108867)
Maria Iascone (3597656)
Marcello Niceta (4021628)
Ralitza H. Gavrilova (11263723)
Laura Schultz-Rogers (11263726)
Emanuele Agolini (9577349)
Maria Francesca Bedeschi (4526644)
Paolo Prontera (11263729)
Matteo Garibaldi (6177266)
Serena Galosi (8982170)
Vincenzo Leuzzi (500280)
Paola Soliveri (7154510)
Rory J. Olson (11263732)
Giovanna S. Zorzi (11263735)
Barbara M. Garavaglia (11263738)
Marco Tartaglia (11263741)
Bekim Sadikovic (56562)

August 2021

Additional file 7: Figure S7. Differentially methylated regions (DMRs) in DYT28. For each significan...

Additional file 2 of Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

Andrea Ciolfi (4021622)
Aidin Foroutan (11263717)
Alessandro Capuano (7554794)
Lucia Pedace (8263269)
Lorena Travaglini (7554791)
Simone Pizzi (8263266)
Marco Andreani (4683250)
Evelina Miele (1307871)
Federica Invernizzi (3519104)
Chiara Reale (11263720)
Celeste Panteghini (11108867)
Maria Iascone (3597656)
Marcello Niceta (4021628)
Ralitza H. Gavrilova (11263723)
Laura Schultz-Rogers (11263726)
Emanuele Agolini (9577349)
Maria Francesca Bedeschi (4526644)
Paolo Prontera (11263729)
Matteo Garibaldi (6177266)
Serena Galosi (8982170)
Vincenzo Leuzzi (500280)
Paola Soliveri (7154510)
Rory J. Olson (11263732)
Giovanna S. Zorzi (11263735)
Barbara M. Garavaglia (11263738)
Marco Tartaglia (11263741)
Bekim Sadikovic (56562)

August 2021

Additional file 2: Figure S2. Volcano plot of differences in the methylation status of individual pr...

Additional file 4 of Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

Andrea Ciolfi (4021622)
Aidin Foroutan (11263717)
Alessandro Capuano (7554794)
Lucia Pedace (8263269)
Lorena Travaglini (7554791)
Simone Pizzi (8263266)
Marco Andreani (4683250)
Evelina Miele (1307871)
Federica Invernizzi (3519104)
Chiara Reale (11263720)
Celeste Panteghini (11108867)
Maria Iascone (3597656)
Marcello Niceta (4021628)
Ralitza H. Gavrilova (11263723)
Laura Schultz-Rogers (11263726)
Emanuele Agolini (9577349)
Maria Francesca Bedeschi (4526644)
Paolo Prontera (11263729)
Matteo Garibaldi (6177266)
Serena Galosi (8982170)
Vincenzo Leuzzi (500280)
Paola Soliveri (7154510)
Rory J. Olson (11263732)
Giovanna S. Zorzi (11263735)
Barbara M. Garavaglia (11263738)
Marco Tartaglia (11263741)
Bekim Sadikovic (56562)

August 2021

Additional file 4: Figure S4. Leave-1-out cross validation carried out by means of MDS plots based o...

Additional file 8 of Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

Andrea Ciolfi (4021622)
Aidin Foroutan (11263717)
Alessandro Capuano (7554794)
Lucia Pedace (8263269)
Lorena Travaglini (7554791)
Simone Pizzi (8263266)
Marco Andreani (4683250)
Evelina Miele (1307871)
Federica Invernizzi (3519104)
Chiara Reale (11263720)
Celeste Panteghini (11108867)
Maria Iascone (3597656)
Marcello Niceta (4021628)
Ralitza H. Gavrilova (11263723)
Laura Schultz-Rogers (11263726)
Emanuele Agolini (9577349)
Maria Francesca Bedeschi (4526644)
Paolo Prontera (11263729)
Matteo Garibaldi (6177266)
Serena Galosi (8982170)
Vincenzo Leuzzi (500280)
Paola Soliveri (7154510)
Rory J. Olson (11263732)
Giovanna S. Zorzi (11263735)
Barbara M. Garavaglia (11263738)
Marco Tartaglia (11263741)
Bekim Sadikovic (56562)

August 2021

Additional file 8: Figure S8. DMRs methylation levels distribution throughout different genomic regi...

Additional file 6 of Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

Andrea Ciolfi (4021622)
Aidin Foroutan (11263717)
Alessandro Capuano (7554794)
Lucia Pedace (8263269)
Lorena Travaglini (7554791)
Simone Pizzi (8263266)
Marco Andreani (4683250)
Evelina Miele (1307871)
Federica Invernizzi (3519104)
Chiara Reale (11263720)
Celeste Panteghini (11108867)
Maria Iascone (3597656)
Marcello Niceta (4021628)
Ralitza H. Gavrilova (11263723)
Laura Schultz-Rogers (11263726)
Emanuele Agolini (9577349)
Maria Francesca Bedeschi (4526644)
Paolo Prontera (11263729)
Matteo Garibaldi (6177266)
Serena Galosi (8982170)
Vincenzo Leuzzi (500280)
Paola Soliveri (7154510)
Rory J. Olson (11263732)
Giovanna S. Zorzi (11263735)
Barbara M. Garavaglia (11263738)
Marco Tartaglia (11263741)
Bekim Sadikovic (56562)

August 2021

Additional file 6: Figure S6. DNA methylation pattern analysis excluding samples with missense KMT2B...

Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

Ciolfi A.
Foroutan A.
Capuano A.
Pedace L.
Travaglini L.
Pizzi S.
Andreani M.
Miele E.
Invernizzi F.
Reale C.
Panteghini C.
Iascone M.
Niceta M.
Gavrilova R. H.
Schultz-Rogers L.
Agolini E.
Bedeschi M. F.
Prontera P.
Garibaldi M.
Galosi S.
Leuzzi V.
Soliveri P.
Olson R. J.
Zorzi G. S.
Garavaglia B. M.
Tartaglia M.
Sadikovic B.

January 2021

Background: Dystonia is a clinically and genetically heterogeneous movement disorder characterized b...

<em>KMT2B</em> rare missense variants in generalized dystonia.

Zech, M.
Jech, R.
Havránková, P.
Fečíková, A.
Berutti, R.
Urgošík, D.
Kemlink, D.
Strom, T.M.
Roth, J.
Růžička, E.
Winkelmann, J.

January 2017

BACKGROUND: Recently a novel syndrome of childhood-onset generalized dystonia originating from mutat...

Adult-onset KMT2B-related dystonia

Monfrini, Edoardo
Ciolfi, Andrea
Cavallieri, Francesco
Ferilli, Marco
Soliveri, Paola
Pedace, Lucia
Erro, Roberto
Del Sorbo, Francesca
Valzania, Franco
Fioravanti, Valentina
Cossu, Giovanni
Pellegrini, Maria
Salviati, Leonardo
Invernizzi, Federica
Oppo, Valentina
Murgia, Daniela
Giometto, Bruno
Picillo, Marina
Garavaglia, Barbara
Morgante, Francesca
Tartaglia, Marco
Carecchio, Miryam
Di Fonzo, Alessio

January 2022

KMT2B-related dystonia (DYT-KMT2B, also known as DYT28) is an autosomal dominant neurological disord...

Haploinsufficiency of KMT2B, encoding the lysine-specific histone methyltransferase 2B, results in early-onset generalized dystonia.

Zech, M.
Boesch, S.
Maier, E.M.
Borggraefe, I.
Vill, K.
Laccone, F.
Pilshofer, V.
Ceballos-Baumann, A.
Alhaddad, B.
Berutti, R.
Poewe, W.
Haack, T.B.
Haslinger, B.
Strom, T.M.
Winkelmann, J.

January 2016

Early-onset generalized dystonia represents the severest form of dystonia, a hyperkinetic movement d...

Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.

Mirza-Schreiber, N.
Zech, M.
Wilson, R.
Brunet, T.
Wagner, M.
Jech, R.
Boesch, S.
Škorvánek, M.
Necpál, J.
Weise, D.
Weber, S.
Mollenhauer, B.
Trenkwalder, C.
Maier, E.M.
Borggraefe, I.
Vill, K.
Hackenberg, A.
Pilshofer, V.
Kotzaeridou, U.
Schwaibold, E.M.C.
Hoefele, J.
Waldenberger, M.
Gieger, C.
Peters, A.
Meitinger, T.
Schormair, B.
Winkelmann, J.
Oexle, K.

January 2021

Dystonia is a prevalent, heterogeneous movement disorder characterized by involuntarily abnormal pos...

Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset

Mirza-Schreiber, Nazanin
Zech, Michael
Wilson, Rory
Brunet, Theresa
Wagner, Matias
Jech, Robert
Boesch, Sylvia
Škorvánek, Matej
Necpál, Ján
Weise, David
Weber, Sandrina
Mollenhauer, Brit
Trenkwalder, Claudia
Maier, Esther M
Borggraefe, Ingo
Vill, Katharina
Hackenberg, Annette
Pilshofer, Veronika
Kotzaeridou, Urania
Schwaibold, Eva Maria Christina
Hoefele, Julia
Waldenberger, Melanie
Gieger, Christian
Peters, Annette
Meitinger, Thomas
Schormair, Barbara
Winkelmann, Juliane
Oexle, Konrad

April 2022

Dystonia is a prevalent, heterogeneous movement disorder characterized by involuntarily abnormal pos...

Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia

Kloss, Manja
KARACA EREK, EZGİ
Cirak, Sebahattin
Koy, Anne
Assmann, Birgit
Thiele, Holger
Altmueller, Janine
Nuernberg, Peter
Pauls, Amande
Horn, Annette
Karakulak, Tulay
Kiening, Karl
Schulze-Rhonhof, Mira
Becker, Kerstin
Contreras, Adriana
Daimagueler, Huelya-Sevcan
Wunderlich, Gilbert
Sprute, Rosanne
Dafsari, Hormos Salimi

August 2019

Rapid progress has recently been made in the elucidation of the genetic basis of childhood-onset inh...

Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study

Carecchio M.
Invernizzi F.
Gonzalez-Latapi P.
Panteghini C.
Zorzi, Gianni
Romito L.
Leuzzi V.
Galosi S.
Reale C.
Zibordi F.
Joseph A. P.
Topf M.
Piano C.
Bentivoglio A. R. (ORCID:0000-0002-9663-095X)
Girotti, Francesco
Morana P.
Morana B.
Kurian M. A.
Garavaglia B.
Mencacci N. E.
Lubbe S. J.
Nardocci N.

January 2019

Background: Childhood-onset dystonia is often genetically determined. Recently, KMT2B variants have ...

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Meyer, E.
Carss, K. J.
Rankin, Julia
Nichols, J. M. E.
Grozeva, D.
Joseph, A. P.
Mencacci, N. E.
Papandreou, A.
Ng, J.
Barral, S.
Ngoh, A.
Ben-Pazi, H.
Willemsen, M. A.
Arkadir, D.
Barnicoat, A.
Bergman, H.
Bhate, S.
Boys, A.
Darin, N.
Foulds, N.
Gutowski, Nicholas J.
Hills, A.
Houlden, H.
Hurst, J. A.
Israel, Z.
Kaminska, M.
Limousin, P.
Lumsden, D.
McKee, S. A.
Misra, S.
Mohammed, S. S.
Nakou, V.
Nicolai, J.
Nilsson, M.
Pall, H.
Peall, K. J.
Peters, G. B.
Prabhakar, P.
Reuter, M. S.
Rump, P.
Segel, R.
Sinnema, M.
Smith, M.
Turnpenny, Peter D.
White, S. M.
Wieczorek, D.
Wiethoff, S.
Wilson, B. T.
Winter, G.
Wragg, C.
Pope, S.
Heales, S. J. H.
Morrogh, D.
Pittman, A.
Carr, L. J.
Perez-Dueñas, B.
Lin, J-P
Reis, A.
Gahl, W. A.
Toro, C.
Bhatia, K. P.
Wood, N. W.
Kamsteeg, E-J
Chong, W. K.
Gissen, P.
Topf, M.
Dale, R. C.
Chubb, J.R.
Raymond, F. L.
Kurian, M. A.

December 2016

Histone lysine methylation, mediated by mixed-lineage leukemia (MLL) proteins, is now known to be cr...

Additional file 1 of Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

Andrea Ciolfi (4021622)
Aidin Foroutan (11263717)
Alessandro Capuano (7554794)
Lucia Pedace (8263269)
Lorena Travaglini (7554791)
Simone Pizzi (8263266)
Marco Andreani (4683250)
Evelina Miele (1307871)
Federica Invernizzi (3519104)
Chiara Reale (11263720)
Celeste Panteghini (11108867)
Maria Iascone (3597656)
Marcello Niceta (4021628)
Ralitza H. Gavrilova (11263723)
Laura Schultz-Rogers (11263726)
Emanuele Agolini (9577349)
Maria Francesca Bedeschi (4526644)
Paolo Prontera (11263729)
Matteo Garibaldi (6177266)
Serena Galosi (8982170)
Vincenzo Leuzzi (500280)
Paola Soliveri (7154510)
Rory J. Olson (11263732)
Giovanna S. Zorzi (11263735)
Barbara M. Garavaglia (11263738)
Marco Tartaglia (11263741)
Bekim Sadikovic (56562)

August 2021

Additional file 1: Figure S1. Chromatograms showing the KMT2B variants identified in the 18 patients...

Additional file 7 of Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

Andrea Ciolfi (4021622)
Aidin Foroutan (11263717)
Alessandro Capuano (7554794)
Lucia Pedace (8263269)
Lorena Travaglini (7554791)
Simone Pizzi (8263266)
Marco Andreani (4683250)
Evelina Miele (1307871)
Federica Invernizzi (3519104)
Chiara Reale (11263720)
Celeste Panteghini (11108867)
Maria Iascone (3597656)
Marcello Niceta (4021628)
Ralitza H. Gavrilova (11263723)
Laura Schultz-Rogers (11263726)
Emanuele Agolini (9577349)
Maria Francesca Bedeschi (4526644)
Paolo Prontera (11263729)
Matteo Garibaldi (6177266)
Serena Galosi (8982170)
Vincenzo Leuzzi (500280)
Paola Soliveri (7154510)
Rory J. Olson (11263732)
Giovanna S. Zorzi (11263735)
Barbara M. Garavaglia (11263738)
Marco Tartaglia (11263741)
Bekim Sadikovic (56562)

August 2021

Additional file 7: Figure S7. Differentially methylated regions (DMRs) in DYT28. For each significan...

Additional file 2 of Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

Andrea Ciolfi (4021622)
Aidin Foroutan (11263717)
Alessandro Capuano (7554794)
Lucia Pedace (8263269)
Lorena Travaglini (7554791)
Simone Pizzi (8263266)
Marco Andreani (4683250)
Evelina Miele (1307871)
Federica Invernizzi (3519104)
Chiara Reale (11263720)
Celeste Panteghini (11108867)
Maria Iascone (3597656)
Marcello Niceta (4021628)
Ralitza H. Gavrilova (11263723)
Laura Schultz-Rogers (11263726)
Emanuele Agolini (9577349)
Maria Francesca Bedeschi (4526644)
Paolo Prontera (11263729)
Matteo Garibaldi (6177266)
Serena Galosi (8982170)
Vincenzo Leuzzi (500280)
Paola Soliveri (7154510)
Rory J. Olson (11263732)
Giovanna S. Zorzi (11263735)
Barbara M. Garavaglia (11263738)
Marco Tartaglia (11263741)
Bekim Sadikovic (56562)

August 2021

Additional file 2: Figure S2. Volcano plot of differences in the methylation status of individual pr...

Additional file 4 of Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

Andrea Ciolfi (4021622)
Aidin Foroutan (11263717)
Alessandro Capuano (7554794)
Lucia Pedace (8263269)
Lorena Travaglini (7554791)
Simone Pizzi (8263266)
Marco Andreani (4683250)
Evelina Miele (1307871)
Federica Invernizzi (3519104)
Chiara Reale (11263720)
Celeste Panteghini (11108867)
Maria Iascone (3597656)
Marcello Niceta (4021628)
Ralitza H. Gavrilova (11263723)
Laura Schultz-Rogers (11263726)
Emanuele Agolini (9577349)
Maria Francesca Bedeschi (4526644)
Paolo Prontera (11263729)
Matteo Garibaldi (6177266)
Serena Galosi (8982170)
Vincenzo Leuzzi (500280)
Paola Soliveri (7154510)
Rory J. Olson (11263732)
Giovanna S. Zorzi (11263735)
Barbara M. Garavaglia (11263738)
Marco Tartaglia (11263741)
Bekim Sadikovic (56562)

August 2021

Additional file 4: Figure S4. Leave-1-out cross validation carried out by means of MDS plots based o...

Additional file 8 of Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

Andrea Ciolfi (4021622)
Aidin Foroutan (11263717)
Alessandro Capuano (7554794)
Lucia Pedace (8263269)
Lorena Travaglini (7554791)
Simone Pizzi (8263266)
Marco Andreani (4683250)
Evelina Miele (1307871)
Federica Invernizzi (3519104)
Chiara Reale (11263720)
Celeste Panteghini (11108867)
Maria Iascone (3597656)
Marcello Niceta (4021628)
Ralitza H. Gavrilova (11263723)
Laura Schultz-Rogers (11263726)
Emanuele Agolini (9577349)
Maria Francesca Bedeschi (4526644)
Paolo Prontera (11263729)
Matteo Garibaldi (6177266)
Serena Galosi (8982170)
Vincenzo Leuzzi (500280)
Paola Soliveri (7154510)
Rory J. Olson (11263732)
Giovanna S. Zorzi (11263735)
Barbara M. Garavaglia (11263738)
Marco Tartaglia (11263741)
Bekim Sadikovic (56562)

August 2021

Additional file 8: Figure S8. DMRs methylation levels distribution throughout different genomic regi...

Additional file 6 of Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

Andrea Ciolfi (4021622)
Aidin Foroutan (11263717)
Alessandro Capuano (7554794)
Lucia Pedace (8263269)
Lorena Travaglini (7554791)
Simone Pizzi (8263266)
Marco Andreani (4683250)
Evelina Miele (1307871)
Federica Invernizzi (3519104)
Chiara Reale (11263720)
Celeste Panteghini (11108867)
Maria Iascone (3597656)
Marcello Niceta (4021628)
Ralitza H. Gavrilova (11263723)
Laura Schultz-Rogers (11263726)
Emanuele Agolini (9577349)
Maria Francesca Bedeschi (4526644)
Paolo Prontera (11263729)
Matteo Garibaldi (6177266)
Serena Galosi (8982170)
Vincenzo Leuzzi (500280)
Paola Soliveri (7154510)
Rory J. Olson (11263732)
Giovanna S. Zorzi (11263735)
Barbara M. Garavaglia (11263738)
Marco Tartaglia (11263741)
Bekim Sadikovic (56562)

August 2021

Additional file 6: Figure S6. DNA methylation pattern analysis excluding samples with missense KMT2B...

Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

Ciolfi A.
Foroutan A.
Capuano A.
Pedace L.
Travaglini L.
Pizzi S.
Andreani M.
Miele E.
Invernizzi F.
Reale C.
Panteghini C.
Iascone M.
Niceta M.
Gavrilova R. H.
Schultz-Rogers L.
Agolini E.
Bedeschi M. F.
Prontera P.
Garibaldi M.
Galosi S.
Leuzzi V.
Soliveri P.
Olson R. J.
Zorzi G. S.
Garavaglia B. M.
Tartaglia M.
Sadikovic B.

January 2021

Background: Dystonia is a clinically and genetically heterogeneous movement disorder characterized b...

<em>KMT2B</em> rare missense variants in generalized dystonia.

Zech, M.
Jech, R.
Havránková, P.
Fečíková, A.
Berutti, R.
Urgošík, D.
Kemlink, D.
Strom, T.M.
Roth, J.
Růžička, E.
Winkelmann, J.

January 2017

BACKGROUND: Recently a novel syndrome of childhood-onset generalized dystonia originating from mutat...

Adult-onset KMT2B-related dystonia

Monfrini, Edoardo
Ciolfi, Andrea
Cavallieri, Francesco
Ferilli, Marco
Soliveri, Paola
Pedace, Lucia
Erro, Roberto
Del Sorbo, Francesca
Valzania, Franco
Fioravanti, Valentina
Cossu, Giovanni
Pellegrini, Maria
Salviati, Leonardo
Invernizzi, Federica
Oppo, Valentina
Murgia, Daniela
Giometto, Bruno
Picillo, Marina
Garavaglia, Barbara
Morgante, Francesca
Tartaglia, Marco
Carecchio, Miryam
Di Fonzo, Alessio

January 2022

KMT2B-related dystonia (DYT-KMT2B, also known as DYT28) is an autosomal dominant neurological disord...

Haploinsufficiency of KMT2B, encoding the lysine-specific histone methyltransferase 2B, results in early-onset generalized dystonia.

Zech, M.
Boesch, S.
Maier, E.M.
Borggraefe, I.
Vill, K.
Laccone, F.
Pilshofer, V.
Ceballos-Baumann, A.
Alhaddad, B.
Berutti, R.
Poewe, W.
Haack, T.B.
Haslinger, B.
Strom, T.M.
Winkelmann, J.

January 2016

Early-onset generalized dystonia represents the severest form of dystonia, a hyperkinetic movement d...

Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.

Mirza-Schreiber, N.
Zech, M.
Wilson, R.
Brunet, T.
Wagner, M.
Jech, R.
Boesch, S.
Škorvánek, M.
Necpál, J.
Weise, D.
Weber, S.
Mollenhauer, B.
Trenkwalder, C.
Maier, E.M.
Borggraefe, I.
Vill, K.
Hackenberg, A.
Pilshofer, V.
Kotzaeridou, U.
Schwaibold, E.M.C.
Hoefele, J.
Waldenberger, M.
Gieger, C.
Peters, A.
Meitinger, T.
Schormair, B.
Winkelmann, J.
Oexle, K.

January 2021

Dystonia is a prevalent, heterogeneous movement disorder characterized by involuntarily abnormal pos...

Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset

Mirza-Schreiber, Nazanin
Zech, Michael
Wilson, Rory
Brunet, Theresa
Wagner, Matias
Jech, Robert
Boesch, Sylvia
Škorvánek, Matej
Necpál, Ján
Weise, David
Weber, Sandrina
Mollenhauer, Brit
Trenkwalder, Claudia
Maier, Esther M
Borggraefe, Ingo
Vill, Katharina
Hackenberg, Annette
Pilshofer, Veronika
Kotzaeridou, Urania
Schwaibold, Eva Maria Christina
Hoefele, Julia
Waldenberger, Melanie
Gieger, Christian
Peters, Annette
Meitinger, Thomas
Schormair, Barbara
Winkelmann, Juliane
Oexle, Konrad

April 2022

Dystonia is a prevalent, heterogeneous movement disorder characterized by involuntarily abnormal pos...

Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia

Kloss, Manja
KARACA EREK, EZGİ
Cirak, Sebahattin
Koy, Anne
Assmann, Birgit
Thiele, Holger
Altmueller, Janine
Nuernberg, Peter
Pauls, Amande
Horn, Annette
Karakulak, Tulay
Kiening, Karl
Schulze-Rhonhof, Mira
Becker, Kerstin
Contreras, Adriana
Daimagueler, Huelya-Sevcan
Wunderlich, Gilbert
Sprute, Rosanne
Dafsari, Hormos Salimi

August 2019

Rapid progress has recently been made in the elucidation of the genetic basis of childhood-onset inh...

Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study

Carecchio M.
Invernizzi F.
Gonzalez-Latapi P.
Panteghini C.
Zorzi, Gianni
Romito L.
Leuzzi V.
Galosi S.
Reale C.
Zibordi F.
Joseph A. P.
Topf M.
Piano C.
Bentivoglio A. R. (ORCID:0000-0002-9663-095X)
Girotti, Francesco
Morana P.
Morana B.
Kurian M. A.
Garavaglia B.
Mencacci N. E.
Lubbe S. J.
Nardocci N.

January 2019

Background: Childhood-onset dystonia is often genetically determined. Recently, KMT2B variants have ...

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Meyer, E.
Carss, K. J.
Rankin, Julia
Nichols, J. M. E.
Grozeva, D.
Joseph, A. P.
Mencacci, N. E.
Papandreou, A.
Ng, J.
Barral, S.
Ngoh, A.
Ben-Pazi, H.
Willemsen, M. A.
Arkadir, D.
Barnicoat, A.
Bergman, H.
Bhate, S.
Boys, A.
Darin, N.
Foulds, N.
Gutowski, Nicholas J.
Hills, A.
Houlden, H.
Hurst, J. A.
Israel, Z.
Kaminska, M.
Limousin, P.
Lumsden, D.
McKee, S. A.
Misra, S.
Mohammed, S. S.
Nakou, V.
Nicolai, J.
Nilsson, M.
Pall, H.
Peall, K. J.
Peters, G. B.
Prabhakar, P.
Reuter, M. S.
Rump, P.
Segel, R.
Sinnema, M.
Smith, M.
Turnpenny, Peter D.
White, S. M.
Wieczorek, D.
Wiethoff, S.
Wilson, B. T.
Winter, G.
Wragg, C.
Pope, S.
Heales, S. J. H.
Morrogh, D.
Pittman, A.
Carr, L. J.
Perez-Dueñas, B.
Lin, J-P
Reis, A.
Gahl, W. A.
Toro, C.
Bhatia, K. P.
Wood, N. W.
Kamsteeg, E-J
Chong, W. K.
Gissen, P.
Topf, M.
Dale, R. C.
Chubb, J.R.
Raymond, F. L.
Kurian, M. A.

December 2016

Histone lysine methylation, mediated by mixed-lineage leukemia (MLL) proteins, is now known to be cr...

Additional file 11 of Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

Abstract

Extracted data

Additional file 11 of Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

Abstract

Extracted data

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