Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia, and facial dysmorphism

被引：0

作者：

Harms, F. L. ^{[1
]}

Girisha, K. M. ^{[2
]}

Hardigan, A. A. ^{[3
,4
]}

Kortuem, F. ^{[1
]}

Shukla, A. ^{[2
]}

Alawi, M. ^{[5
,6
,7
]}

Dalal, A. ^{[8
]}

Brady, L. ^{[9
]}

Tarnopolsky, M. ^{[9
]}

Bird, L. M. ^{[10
,11
]}

Ceulemans, S. ^{[11
]}

Bebin, M. ^{[12
]}

Bowling, K. M. ^{[3
]}

Hiatt, S. M. ^{[3
]}

Lose, E. J. ^{[4
]}

Primiano, M. ^{[13
]}

Chung, W. K. ^{[13
]}

Juusola, J. ^{[14
]}

Akdemir, Z. C. ^{[15
]}

Bainbridge, M. ^{[16
]}

Charng, W. ^{[15
]}

Drummond-Borg, M. ^{[17
]}

Eldomery, M. K. ^{[15
]}

El-Hattab, A. W. ^{[18
]}

Saleh, M. A. M. ^{[19
]}

Bezieau, S. ^{[20
]}

Cogne, B. ^{[20
]}

Isidor, B. ^{[20
,21
]}

Kury, S. ^{[20
]}

Lupski, J. R. ^{[15
]}

Myers, R. M. ^{[3
]}

Cooper, G. M. ^{[3
]}

Kutsche, K. ^{[1
]}

机构：

[1] Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany

[2] Manipal Univ, Dept Med Genet, Kasturba Med Coll, Manipal, Karnataka, India

[3] HudsonAlpha Inst Biotechnol, Huntsville, AL USA

[4] Univ Alabama Birmingham, Dept Genet, Birmingham, AL USA

[5] Univ Med Ctr Hamburg Eppendorf, Bioinformat Serv Facil, Hamburg, Germany

[6] Univ Hamburg, Ctr Bioinformat, Hamburg, Germany

[7] Leibniz Inst Expt Virol, Virus Genom, Heinrich Pette Inst, Hamburg, Germany

[8] Ctr DNA Fingerprinting & Diagnost, Diagnost Div, Hyderabad, Telangana, India

[9] McMaster Univ, Dept Pediat, Med Ctr, Hamilton, ON, Canada

[10] Univ Calif San Diego, Dept Pediat, San Diego, CA 92103 USA

[11] Rady Childrens Hosp San Diego, Div Genet Dysmorphol, San Diego, CA USA

[12] Univ Alabama Birmingham, Dept Neurol, UAB Stn, Birmingham, AL 35294 USA

[13] Columbia Univ, Dept Pediat & Med, New York, NY USA

[14] GeneDx, Gaithersburg, MD USA

[15] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[16] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA

[17] Cook Childrens Genet Clin, Ft Worth, TX USA

[18] Tawam Hosp, Dept Pediat, Div Clin Genet & Metab Disorders, Al Ain, U Arab Emirates

[19] King Fahad Med City, Childrens Hosp, Sect Med Genet, Riyadh, Saudi Arabia

[20] CHU Nantes, Serv Genet Med, Nantes, France

[21] INSERM, UMR S 957, Nantes, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2018年 / 26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：

C16.2

引用

页码：84 / 84

页数：1

共 34 条

[31] MISSENSE MUTATIONS DISRUPTING THE HELICASE DOMAIN OF CHROMATIN REMODELLER CHD3 CAUSE A NOVEL NEURODEVELOPMENTAL SYNDROME WITH INTELLECTUAL DISABILITY, MACROCEPHALY AND IMPAIRED SPEECH AND LANGUAGE
Blok, L. S.
Rousseau, J.
Twist, J.
Ehresmann, S.
Takaku, M.
Wade, P. A.
Fisher, S. E.
Campeau, P. M.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 179 (04) : 705 - 705
[32] De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
Lehalle, Daphne
Vabres, Pierre
Sorlin, Arthur
Bierhals, Tatjana
Avila, Magali
Carmignac, Virginie
Chevarin, Martin
Torti, Erin
Abe, Yuichi
Bartolomaeus, Tobias
Clayton-Smith, Jill
Cogne, Benjamin
Cusco, Ivon
Duplomb, Laurence
De Bont, Eveline
Duffourd, Yannis
Duijkers, Floor
Elpeleg, Orly
Fattal, Aviva
Genevieve, David
Guillen Sacoto, Maria J.
Guimier, Anne
Harris, David J.
Hempel, Maja
Isidor, Bertrand
Jouan, Thibaud
Kuentz, Paul
Koshimizu, Eriko
Lichtenbelt, Klaske
Loik Ramey, Valerie
Maik, Miriam
Miyakate, Sakoto
Murakami, Yoshiko
Pasquier, Laurent
Pedro, Helio
Simone, Laurie
Sondergaard-Schatz, Krista
St-Onge, Judith
Thevenon, Julien
Valenzuela, Irene
Abou Jamra, Rami
van Gassen, Koen
van Haelst, Mieke M.
van Koningsbruggen, Silvana
Verdura, Edgard
Whelan Habela, Christa
Zacher, Pia
Riviere, Jean-Baptiste
Thauvin-Robinet, Christel
Betschinger, Joerg
JOURNAL OF MEDICAL GENETICS, 2020, 57 (12) : 808 - 819
[33] De novo missense mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
Lehalle, D.
Vabres, P.
Bierhals, T.
Cho, M. T.
Cogne, B.
Avila, M.
Carmignac, V.
Duplomb-Jego, L.
De Bont, E.
Duffourd, Y.
Duijkers, F.
Elpeleg, O.
Fattal-Valevski, A.
Genevieve, D.
Guimier, A.
Harris, D.
Hempel, M.
Isidor, B.
Jouan, T.
Kuentz, P.
Lichtenbelt, K.
Ramey, V. Loik
Pasquier, L.
St-Onge, J.
Sorlin, A.
Thevenon, J.
Torti, E.
Van Gassen, K.
Van Haelst, M.
van Koningsbruggen, S.
Riviere, J.
Thauvin, C.
Betschinger, J.
Faivre, L.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1094 - 1094
[34] De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability
Grozeva, Detelina
Carss, Keren
Spasic-Boskovic, Olivera
Parker, Michael J.
Archer, Hayley
Firth, Helen V.
Park, Soo-Mi
Canham, Natalie
Holder, Susan E.
Wilson, Meredith
Hackett, Anna
Field, Michael
Floyd, James A. B.
Hurles, Matthew
Raymond, F. Lucy
AMERICAN JOURNAL OF HUMAN GENETICS, 2014, 94 (04) : 618 - 624

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