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

[1] Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism
Harms, Frederike Leonie
Girisha, Katta M.
Hardigan, Andrew A.
Koruem, Fanny
Shukla, Anju
Alawi, Malik
Dalal, Ashwin
Brady, Lauren
Tarnopolsky, Mark
Bird, Lynne M.
Ceulemans, Sophia
Bebin, Martina
Bowling, Kevin M.
Hiatt, Susan M.
Lose, Edward J.
Primiano, Michelle
Chung, Wendy K.
Juusola, Jane
Akdemir, Zeynep C.
Bainbridge, Matthew
Charng, Wu-Lin
Drummond-Borg, Margaret
Eldomery, Mohammad K.
El-Hattab, Ayman W.
Saleh, Mohammed A. M.
Bezieau, Stephane
Cogne, Benjamin
Isidor, Bertrand
Kury, Sebastien
Lupski, James R.
Myers, Richard M.
Cooper, Gregory M.
Kutsche, Kerstin
AMERICAN JOURNAL OF HUMAN GENETICS, 2017, 100 (01) : 117 - 127
[2] MUTATIONS IN EBF3 DISTURB TRANSCRIPTIONAL PROFILES AND UNDERLIE A NOVEL SYNDROME OF INTELLECTUAL DISABILITY, ATAXIA AND FACIAL DYSMORPHISM
Girisha, Katta Mohan
Harms, Frederike Leonie
Hardigan, Andrew A.
Kortuem, Fanny
Shukla, Anju
Alawi, Malik
Dalal, Ashwin
Brady, Lauren
Tarnopolsky, Mark
Bird, Lynne M.
Ceulemans, Sophia
Bebin, Martina
Bowling, Kevin M.
Hiatt, Susan M.
Lose, Edward J.
Primiano, Michelle
Chung, Wendy K.
Juusola, Jane
Akdemir, Zeynep C.
Bainbridge, Matthew
Charng, Wu-Lin
Drummond-Borg, Margaret
Eldomery, Mohammad K.
El-Hattab, Ayman W.
Saleh, Mohammed A. M.
Bezieau, Stephane
Cogne, Benjamin
Isidor, Bertrand
Kury, Sebastien
Lupski, James R.
Myers, Richard M.
Cooper, Gregory M.
Kutsche, Kerstin
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018, 176 (06) : 1466 - 1466
[3] De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome
Sleven, Hannah
Welsh, Seth J.
Yu, Jing
Churchill, Mair E. A.
Wright, Caroline F.
Henderson, Alex
Horvath, Rita
Rankin, Julia
Vogt, Julie
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King, Mary D.
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Armstrong, Linlea
Lehman, Anna
Nelson, Tanya N.
Williams, Jonathan
Clouston, Penny
Hagman, James
Nemeth, Andrea H.
AMERICAN JOURNAL OF HUMAN GENETICS, 2017, 100 (01) : 138 - 150
[4] The Clinical features of individuals of Hypotonia, ataxia, and delayed development syndrome (HADDS) with recurrent EBF3 mutations
Nishi, E.
Uehara, T.
Kosaki, K.
Okamoto, N.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1876 - 1877
[5] Recurrent De Novo Variants in EBF3 Cause a Neurodevelopmental Syndrome Characterized by Hypotonia, Ataxia, and Expressive Speech Disorder
不详
ANNALS OF NEUROLOGY, 2017, 82 : S260 - S260
[6] De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism
Diets, Illja J.
van der Donk, Roos
Baltrunaite, Kristina
Waanders, Esme
Reijnders, Margot R. F.
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Jongmans, Marjolijn C. J.
AMERICAN JOURNAL OF HUMAN GENETICS, 2019, 104 (04) : 758 - 766
[7] Biallelic KDM8 variants cause severe failure to thrive, intellectual disability and peculiar facial dysmorphism
Ounap, Katrin
Fletcher, Sally C.
Hall, Charlotte
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Pajusalu, Sander
Wojcik, Monica H.
Boora, Uncaar
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Hendrix, Eline
Westrip, Christian A. E.
Andrijes, Regina
Piasecka, Sonia K.
Singh, Mansi
El-Asrag, Mohammed E.
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Higgs, Martin R.
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Smerdon, Stephen J.
Stewart, Grant S.
Coleman, Mathew L.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 535 - 535
[8] CDC25B biallelic variants cause short stature, microcephaly, intellectual disability, developmental delay, facial dysmorphism and microphthalmia
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Paracha, Sohail A.
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Santoni, Federico A.
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Agius, Eric
Antonarakis, Stylianos E.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 233 - 233
[9] Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome
Thomas, Anna C.
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[10] 3q29 deletion syndrome in a patient with intellectual disability, facial dysmorphism, bilateral breast cancer, and secondary myelofibrosis
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