Systematic evaluation of EHMT1 protein altering variants uncovers unexpected insights on EHMT1 functions and Kleefstra syndrome pathogenesis

被引：0

作者：

Rots, Dmitrijs ^{[1
]}

Yamada, Ayumi ^{[2
]}

Foroutan, Aidin ^{[3
,4
]}

McCon-Key, Haley ^{[4
]}

Kerkhof, Jennifer ^{[4
]}

Alders, Marielle ^{[5
]}

Maystadt, Isabelle ^{[6
]}

Holden, Simon ^{[7
]}

Balasubramanian, Meena ^{[8
,9
]}

Merla, Giuseppe ^{[10
]}

San-Ten, Gijs ^{[11
]}

Belonis, Alyce ^{[12
]}

Bouman, Arianne ^{[1
]}

Kummeling, Joost ^{[1
]}

Heijligers, Malou ^{[13
]}

Van Haelst, Mieke ^{[14
]}

Parker, Michael ^{[8
]}

Park, Soo-Mi ^{[7
]}

Metcalfe, Kay ^{[15
]}

Genevieve, David ^{[16
,17
]}

Chatron, Nicolas ^{[18
,19
]}

Putoux, Audrey ^{[20
,21
]}

Pasquier, Laurent ^{[22
]}

Dubourg, Christele ^{[23
,24
]}

Strobl-Wildemann, Gertrud

Plomp, Astrid ^{[5
]}

Vreeburg, Maaike ^{[13
]}

Baralle, Diana ^{[25
,26
]}

Foulds, Nicola ^{[25
,26
]}

Scurr, Ingrid ^{[27
]}

Cappuccio, Gerarda ^{[28
]}

Brunetti-Pierri, Nicola

Van Hagen, Annet ^{[14
]}

Bijlsma, Emilia K.

Firth, Helen ^{[7
]}

Forzano, Francesca ^{[29
]}

Kalsner, Louisa ^{[30
,31
,32
]}

Hol, Janna A. ^{[33
]}

Courage, Carolina ^{[34
]}

Vanhoutte, Els ^{[13
]}

Banka, Siddharth ^{[15
]}

Venselaar, Hanka ^{[35
]}

Kasri, N. Nadif ^{[1
]}

van Bokhoven, Hans ^{[1
]}

Brunner, Han ^{[1
]}

Vissers, Lisenka ^{[1
]}

Shinkai, Yoichi ^{[2
]}

Sadikovic, Bekim ^{[4
]}

Kleefstra, Tjitske ^{[1
]}

机构：

[1] Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands

[2] RIKEN CPR, Cellular Memory Lab, Wako, Saitama, Japan

[3] Western Univ, Dept Pathol & Lab Med, London, ON, Canada

[4] London Hlth Sci Ctr, Verspeeten Clin Genome Ctr, London, ON, Canada

[5] Univ Amsterdam, Med Ctr, Dept Human Genet, Amsterdam, Netherlands

[6] Ctr Human Genet, Inst Pathol & Genet, Charleroi, Belgium

[7] Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, England

[8] Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England

[9] Univ Sheffield, Acad Unit Child Hlth, Sheffield, S Yorkshire, England

[10] Univ Naples Federico II, Dept Mol Med & Med Biotechnol, Naples, Italy

[11] Leiden Univ Med Ctr LUMC, Leiden, Netherlands

[12] Cincinnati Childrens Hosp, Div Human Genet, Med Ctr, Cincinnati, OH USA

[13] Maastricht Univ, Med Ctr, Maastricht, Netherlands

[14] Vrije Univ Amsterdam, Amsterdam UMC, Dept Clin Genet, Amsterdam, Netherlands

[15] Manchester Ctr Genom Med, Manchester, Lancs, England

[16] Montpellier Univ, INSERM U1183, Montpellier, France

[17] CHU Montpellier, Genet Clin, Dept Genet Med Malad Rares & Med Personnalisee, Ctr Reference Anomalies Dev SOOR,ERN ITHACA, Montpellier, France

[18] Hosp Civils Lyon, Serv Genet, Ctr Reference Anomalies Dev, Bron, France

[19] Univ Claude Bernard Lyon 1, Inst NeuroMyoGene, CNRS UMR5310, INSERM U1217, Lyon, France

[20] Hosp Civils Lyon, Serv Genet, Ctr Reference Anomalies Dev, Bron, France

[21] Univ Claude Bernard Lyon 1, INSERM U1028, Ctr Rech Neurosci Lyon, Equipe GENDEV,CNRS UMR5292, Lyon, France

[22] CHU Rennes, Dept Med Genet, Hop Sud, Reference Ctr Rare Dis Intellectual Deficiencie, Rennes, France

[23] CHU Rennes, Serv Genet Mol & Genom, F-35033 Rennes, France

[24] Univ Rennes, CNRS, IGDR, UMR 6290, Rennes, France

[25] Univ Southampton, Southampton, Hants, England

[26] Univ Hosp Southampton, Fac Med, Southampton, Hants, England

[27] Univ Hosp Bristol, Dept Clin Genet, Bristol, Avon, England

[28] Telethon Inst Genet & Med, Pozzuoli, Italy

[29] Guys & St Thomas Natl Hlth Syst Fdn Trust, Dept Clin Genet, London, England

[30] Connecticut Childrens Med Ctr, Dept Neurol & Pediat, Farmington, CT USA

[31] Univ Connecticut, Sch Med, Dept Neurol, Farmington, CT USA

[32] Univ Connecticut, Sch Med, Dept Pediat, Farmington, CT USA

[33] Erasmus MC, Rotterdam, Netherlands

[34] Helsinki Univ Hosp, Dept Clin Genet, Helsinki, Finland

[35] Radboud Inst Mol Life Sci, Radboudumc Ctr Mol & Biomol Informat, Nijmegen, Netherlands

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P09.031.C

引用

页码：456 / 457

页数：2

共 33 条

[1] Biochemical validation of EHMT1 missense mutations in Kleefstra syndrome
Ayumi Yamada
Chikako Shimura
Yoichi Shinkai
Journal of Human Genetics, 2018, 63 : 555 - 562
[2] A novel EHMT1 variant in a Turkish case with Kleefstra Syndrome
Ersoy, Aysenur
Geckinli, Bilgen Bilge
Baser, Zeynep
Hanoglu, Onur
Kapazan, Cekdar
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1105 - 1105
[3] Biochemical validation of EHMT1 missense mutations in Kleefstra syndrome
Yamada, Ayumi
Shimura, Chikako
Shinka, Yoichi
JOURNAL OF HUMAN GENETICS, 2018, 63 (05) : 555 - 562
[4] Intragenic duplication of EHMT1 gene results in Kleefstra syndrome
Schwaibold, Eva Maria Christina
Smogavec, Mateja
Hobbiebrunken, Elke
Winter, Lorenz
Zoll, Barbara
Burfeind, Peter
Brockmann, Knut
Pauli, Silke
MOLECULAR CYTOGENETICS, 2014, 7
[5] Intragenic duplication of EHMT1 gene results in Kleefstra syndrome
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Molecular Cytogenetics, 7
[6] Histone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates Homeostatic Synaptic Scaling
Benevento, Marco
Iacono, Giovanni
Selten, Martijn
Ba, Wei
Oudakker, Astrid
Frega, Monica
Keller, Jason
Mancini, Roberta
Lewerissa, Elly
Kleefstra, Tjitske
Stunnenberg, Henk G.
Zhou, Huiqing
van Bokhoven, Hans
Kasri, Nael Nadif
NEURON, 2016, 91 (02) : 341 - 355
[7] REVERSIBLE WHITE MATTER LESIONS ASSOCIATED WITH MUTANT EHMT1 AND KLEEFSTRA SYNDROME
He, Xu
Caluseriu, Oana
Srivastava, Ratika
Denny, Anne Marie
Bolduc, Francois V.
NEUROLOGY-GENETICS, 2016, 2 (02)
[8] Distinct functions of EHMT1 and EHMT2 in cancer chemotherapy and immunotherapy
Kang, Zhihua
Fu, Pan
Ma, Hui
Li, Tao
Lu, Kevin
Liu, Juan
Ginjala, Vasudeva
Romanienko, Peter
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Guan, Ming
Ganesan, Shridar
Xia, Bing
CANCER RESEARCH, 2024, 84 (06)
[9] Tourette-like syndrome secondary to Kleefstra syndrome 1 with a de novo microdeletion in the EHMT1 gene
Niu, Mengyue
Li, Yanjing
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Sun, Bomin
Liu, Jun
Wu, Yiwen
BMC NEUROLOGY, 2023, 23 (01)
[10] Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association
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Hodax, Juanita
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Quintos, Jose Bernardo
CASE REPORTS IN ENDOCRINOLOGY, 2018, 2018

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