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

被引：0

作者：

Andrea Ciolfi

Aidin Foroutan

Alessandro Capuano

Lucia Pedace

Lorena Travaglini

Simone Pizzi

Marco Andreani

Evelina Miele

Federica Invernizzi

Chiara Reale

Celeste Panteghini

Maria Iascone

Marcello Niceta

Ralitza H. Gavrilova

Laura Schultz-Rogers

Emanuele Agolini

Maria Francesca Bedeschi

Paolo Prontera

Matteo Garibaldi

Serena Galosi

Vincenzo Leuzzi

Paola Soliveri

Rory J. Olson

Giovanna S. Zorzi

Barbara M. Garavaglia

Marco Tartaglia

Bekim Sadikovic

机构：

[1] IRCCS,Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù

[2] Western University,Department of Pathology and Laboratory Medicine

[3] London Health Sciences Centre,Verspeeten Clinical Genome Centre

[4] IRCCS,Department of Neuroscience, Ospedale Pediatrico Bambino Gesù

[5] IRCCS,Department of Pediatric Onco

[6] Fondazione IRCCS Istituto Neurologico C. Besta,Hematology and Cell and Gene Therapy, Ospedale Pediatrico Bambino Gesù

[7] ASST Papa Giovanni XXIII,Medical Genetics and Neurogenetics Unit

[8] Mayo Clinic,Medical Genetics Laboratory

[9] IRCCS,Center for Individualized Medicine

[10] Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico,Translational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital

[11] University Hospital of Perugia,Medical Genetic Unit

[12] Sapienza University,Maternal

[13] Sant’Andrea Hospital,Infantile Department

[14] Sapienza University,Department of Neuroscience, NESMOS

[15] Fondazione IRCCS Istituto Neurologico C. Besta,Department of Human Neuroscience, Child Neurology and Psychiatry

[16] Fondazione IRCCS Istituto Neurologico C. Besta,Department of Neurology

[17] London Health Sciences Centre,Department of Child Neurology

来源：

Clinical Epigenetics | 2021年 / 13卷

关键词：

DNA methylation; Episignature; KMT2B; Dystonia 28;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

共 34 条

[31] A KMT2B Frameshift Variant Causing Focal Dystonia Restricted to the Oromandibular Region After Long-Term Follow-up
Closas, Alfand Marl F. Dy
Lohmann, Katja
Tan, Ai Huey
Ibrahim, Norlinah Mohamed
Lim, Jia Lun
Tay, Yi Wen
Muthusamy, Kalai Arasu
Ahmad-Annuar, Azlina Binti
Klein, Christine
Lim, Shen -Yang
JOURNAL OF MOVEMENT DISORDERS, 2023, 16 (01) : 91 - +
[32] Pallidal deep brain stimulation response in two siblings with atypical adult-onset dystonia related to a KMT2B variant
Luque Buzo, E.
De la Casa-Fages, B.
Gonzalez Sanchez, M.
Perez Sanchez, J. R.
Fernandez Carballal, C.
Garbizu Vidorreta, J.
Mateo Sierra, O.
Contreras Chicote, A.
Grandas, F.
JOURNAL OF THE NEUROLOGICAL SCIENCES, 2022, 438
[33] Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia (vol 49, pg 223, 2017)
Meyer, Esther
Carss, Keren J.
Rankin, Julia
Nichols, John M. E.
Grozeva, Detelina
Joseph, Agnel P.
Mencacci, Niccolo E.
Papandreou, Apostolos
Ng, Joanne
Barral, Serena
Ngoh, Adeline
Ben-Pazi, Hilla
Willemsen, Michel A.
Arkadir, David
Barnicoat, Angela
Bergman, Hagai
Bhate, Sanjay
Boys, Amber
Darin, Niklas
Foulds, Nicola
Gutowski, Nicholas
Hills, Alison
Houlden, Henry
Hurst, Jane A.
Israel, Zvi
Kaminska, Margaret
Limousin, Patricia
Lumsden, Daniel
Mckee, Shane
Misra, Shibalik
Mohammed, Shekeeb S.
Nakou, Vasiliki
Nicolai, Joost
Nilsson, Magnus
Pall, Hardev
Peall, Kathryn J.
Peters, Gregory B.
Prabhakar, Prab
Reuter, Miriam S.
Rump, Patrick
Segel, Reeval
Sinnema, Margje
Smith, Martin
Turnpenny, Peter
White, Susan M.
Wieczorek, Dagmar
Wiethoff, Sarah
Wilson, Brian T.
Winter, Gidon
Wragg, Christopher
NATURE GENETICS, 2017, 49 (06) : 969 - 969
[34] Globus pallidus deep brain stimulation (GPi-DBS) in one patient with complex early-onset dystonia and KMT2B mutation: A case report
Morsi, O.
Valero, G.
Jimenez, J.
Lopez, J.
Baidez, A. E.
Cuartero, B.
Felipe, M.
Sanchez, R.
Zamarro, J.
MOVEMENT DISORDERS, 2018, 33 : S236 - S236

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