De novo variants in DENND5B perturb intracellular vesicular trafficking and cause neurodevelopmental disorders with epilepsy and white matter abnormalities

被引：0

作者：

Scala, Marcello ^{[1
,2
,3
]}

Tomati, Valeria ^{[3
]}

Cohen, Julie ^{[4
,5
]}

Fatemi, Ali ^{[4
,5
]}

Brokamp, Elly ^{[6
]}

Phillips, John ^{[6
]}

Koziura, Mary ^{[6
]}

Nicouleau, Michael ^{[7
]}

Rio, Marlene ^{[8
,9
]}

Boddaert, Nathalie ^{[10
]}

Iacomino, Michele ^{[3
]}

Musante, Ilaria ^{[3
]}

Scudieri, Paolo ^{[3
]}

Baldassari, Simona ^{[3
]}

Rosenfeld, Jill A. ^{[11
,12
]}

Bernstein, Jon ^{[13
]}

Bellus, Gary ^{[14
]}

Reed, Sara ^{[14
]}

Al Saif, Hind ^{[15
]}

Sanchez, Rossana ^{[16
]}

Walsh, Matthew ^{[16
]}

Cantagrel, Vincent ^{[17
]}

Striano, Pasquale ^{[1
,2
]}

Salpietro, Vincenzo ^{[1
,2
]}

Pedemonte, Nicoletta ^{[3
]}

Zara, Federico ^{[3
]}

机构：

[1] Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy

[2] IRCCS Ist Giannina Gaslini, Pediat Neurol & Muscular Dis Unit, Genoa, Italy

[3] IRCCS Giannina Gaslini, UOC Genet Med, Genoa, Italy

[4] Kennedy Krieger Inst, Dept Neurol & Dev Med, Baltimore, MD USA

[5] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA

[6] Vanderbilt Univ, Med Ctr, Dept Pediat, Nashville, TN 37232 USA

[7] INSERM, Lab Mol & Pathophysiol Bases Cognit Disorders, Paris, France

[8] Univ Paris, Dev Brain Disorders Lab, INSERM, Paris, France

[9] Necker Enfants Malades Univ Hosp, AP HP, Serv Genet, Paris, France

[10] Hop Necker Enfants Malad, AP HP, INSERM, Dept Radiol Pediat, Paris, France

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

[12] Baylor Genet Labs, Houston, TX USA

[13] Stanford Univ, Dept Pediat, Sch Med, Stanford, CA 94305 USA

[14] Geisinger Med Ctr, Clin Genet, Danville, PA USA

[15] Virginia Commonwealth Univ, Sch Med, Dept Human & Mol Genet, Div Clin Genet, Richmond, VA 23284 USA

[16] Emory Univ, Dept Human Genet, Atlanta, GA 30322 USA

[17] Univ Paris, Dev Brain Disorders Lab, Imagine Inst, INSERM, Paris, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32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：

C18.2

引用

页码：47 / 47

页数：1

共 4 条

[1] De novo variants in DENND5B cause a neurodevelopmental disorder
Scala, Marcello
Tomati, Valeria
Ferla, Matteo
Lena, Mariateresa
Cohen, Julie S.
Fatemi, Ali
Brokamp, Elly
Bican, Anna
Phillips III, John A.
Koziura, Mary E.
Nicouleau, Michael
Rio, Marlene
Siquier, Karine
Boddaert, Nathalie
Musante, Ilaria
Tamburro, Serena
Baldassari, Simona
Iacomino, Michele
Scudieri, Paolo
Rosenfeld, Jill A.
Bellus, Gary
Reed, Sara
Al Saif, Hind
Russo, Rossana Sanchez
Walsh, Matthew B.
Cantagrel, Vincent
Crunk, Amy
Gustincich, Stefano
Ruggiero, Sarah M.
Fitzgerald, Mark P.
Helbig, Ingo
Striano, Pasquale
Severino, Mariasavina
Salpietro, Vincenzo
Pedemonte, Nicoletta
Zara, Federico
AMERICAN JOURNAL OF HUMAN GENETICS, 2024, 111 (03) : 529 - 543
[2] De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities
Bina, Roya
Matalon, Dena
Fregeau, Brieana
Tarsitano, Jacqueline Joani
Aukrust, Ingvild
Houge, Gunnar
Bend, Renee
Warren, Hannah
Stevenson, Roger E.
Stuurman, Kyra Eva
Barkovich, A. James
Sherr, Elliott H.
JOURNAL OF MEDICAL GENETICS, 2020, 57 (07) : 461 - 465
[3] De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders
Akita, Tenpei
Aoto, Kazushi
Kato, Mitsuhiro
Shiina, Masaaki
Mutoh, Hiroki
Nakashima, Mitsuko
Kuki, Ichiro
Okazaki, Shin
Magara, Shinichi
Shiihara, Takashi
Yokochi, Kenji
Aiba, Kaori
Tohyama, Jun
Ohba, Chihiro
Miyatake, Satoko
Miyake, Noriko
Ogata, Kazuhiro
Fukuda, Atsuo
Matsumoto, Naomichi
Saitsu, Hirotomo
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2018, 5 (03): : 280 - 296
[4] ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures
Poggio, Elena
Barazzuol, Lucia
Salmaso, Andrea
Milani, Celeste
Deligiannopoulou, Adamantia
Cazorla, Angeles Garcia
Jang, Se Song
Julia-Palacios, Natalia
Keren, Boris
Kopajtich, Robert
Lynch, Sally Ann
Mignot, Cyril
Moorwood, Catherine
Neuhofer, Christiane
Nigro, Vincenzo
Oostra, Anna
Prokisch, Holger
Saillour, Virginie
Schuermans, Nika
Torella, Annalaura
Verloo, Patrick
Yazbeck, Elise
Zollino, Marcella
Jech, Robert
Winkelmann, Juliane
Necpal, Jan
Cali, Tito
Brini, Marisa
Zech, Michael
GENETICS IN MEDICINE, 2023, 25 (12)

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