De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

the DDD Study

doi:10.1016/j.ajhg.2020.05.017

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

the DDD Study

Pediatric Genetics Division

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	164-172
Number of pages	9
Journal	American Journal of Human Genetics
Volume	107
Issue number	1
DOIs	https://doi.org/10.1016/j.ajhg.2020.05.017
State	Published - Jul 2 2020

ASJC Scopus Subject Areas

Genetics
Genetics(clinical)

Keywords

CCR4-NOT complex
CNOT1
Drosophila
de novo mutations
developmental delay
exome sequencing
genomics
intellectual disability
neurodevelopment
Humans
Male
Nervous System Malformations/genetics
Genetic Variation/genetics
Haploinsufficiency/genetics
Developmental Disabilities/genetics
Receptors, CCR4/genetics
Nuclear Receptor Subfamily 4, Group A, Member 2/genetics
Female
Protein Stability
Transcription Factors/genetics
RNA/genetics
Phenotype
Alleles
Heterozygote
Gene Expression/genetics
Neurodevelopmental Disorders/genetics

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10.1016/j.ajhg.2020.05.017

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@article{59f83f9179044cc7a7c22f1dfb2a966f,

title = "De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay",

keywords = "CCR4-NOT complex, CNOT1, Drosophila, de novo mutations, developmental delay, exome sequencing, genomics, intellectual disability, neurodevelopment, Humans, Male, Nervous System Malformations/genetics, Genetic Variation/genetics, Haploinsufficiency/genetics, Developmental Disabilities/genetics, Receptors, CCR4/genetics, Nuclear Receptor Subfamily 4, Group A, Member 2/genetics, Female, Protein Stability, Transcription Factors/genetics, RNA/genetics, Phenotype, Alleles, Heterozygote, Gene Expression/genetics, Neurodevelopmental Disorders/genetics",

author = "{the DDD Study} and Vissers, {Lisenka E.L.M.} and Sreehari Kalvakuri and {de Boer}, Elke and Sinje Geuer and Machteld Oud and {van Outersterp}, Inge and Michael Kwint and Melde Witmond and Simone Kersten and Polla, {Daniel L.} and Dilys Weijers and Amber Begtrup and Kirsty McWalter and Anna Ruiz and Elisabeth Gabau and Morton, {Jenny E.V.} and Christopher Griffith and Karin Weiss and Candace Gamble and James Bartley and Vernon, {Hilary J.} and Kendra Brunet and Claudia Ruivenkamp and Kant, {Sarina G.} and Paul Kruszka and Austin Larson and Alexandra Afenjar and {Billette de Villemeur}, Thierry and Kimberly Nugent and Raymond, {F. Lucy} and Hanka Venselaar and Florence Demurger and Claudia Soler-Alfonso and Dong Li and Elizabeth Bhoj and Ian Hayes and Hamilton, {Nina Powell} and Ayesha Ahmad and Rachel Fisher and {van den Born}, Myrthe and Marjolaine Willems and Arthur Sorlin and Julian Delanne and Sebastien Moutton and Philippe Christophe and Mau-Them, {Frederic Tran} and Antonio Vitobello and Himanshu Goel and Lauren Massingham and Chanika Phornphutkul",

note = "Publisher Copyright: {\textcopyright} 2020 American Society of Human Genetics",

year = "2020",

month = jul,

day = "2",

doi = "10.1016/j.ajhg.2020.05.017",

language = "English",

volume = "107",

pages = "164--172",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

number = "1",

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TY - JOUR

T1 - De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

AU - the DDD Study

AU - Vissers, Lisenka E.L.M.

AU - Kalvakuri, Sreehari

AU - de Boer, Elke

AU - Geuer, Sinje

AU - Oud, Machteld

AU - van Outersterp, Inge

AU - Kwint, Michael

AU - Witmond, Melde

AU - Kersten, Simone

AU - Polla, Daniel L.

AU - Weijers, Dilys

AU - Begtrup, Amber

AU - McWalter, Kirsty

AU - Ruiz, Anna

AU - Gabau, Elisabeth

AU - Morton, Jenny E.V.

AU - Griffith, Christopher

AU - Weiss, Karin

AU - Gamble, Candace

AU - Bartley, James

AU - Vernon, Hilary J.

AU - Brunet, Kendra

AU - Ruivenkamp, Claudia

AU - Kant, Sarina G.

AU - Kruszka, Paul

AU - Larson, Austin

AU - Afenjar, Alexandra

AU - Billette de Villemeur, Thierry

AU - Nugent, Kimberly

AU - Raymond, F. Lucy

AU - Venselaar, Hanka

AU - Demurger, Florence

AU - Soler-Alfonso, Claudia

AU - Li, Dong

AU - Bhoj, Elizabeth

AU - Hayes, Ian

AU - Hamilton, Nina Powell

AU - Ahmad, Ayesha

AU - Fisher, Rachel

AU - van den Born, Myrthe

AU - Willems, Marjolaine

AU - Sorlin, Arthur

AU - Delanne, Julian

AU - Moutton, Sebastien

AU - Christophe, Philippe

AU - Mau-Them, Frederic Tran

AU - Vitobello, Antonio

AU - Goel, Himanshu

AU - Massingham, Lauren

AU - Phornphutkul, Chanika

PY - 2020/7/2

Y1 - 2020/7/2

KW - CCR4-NOT complex

KW - CNOT1

KW - Drosophila

KW - de novo mutations

KW - developmental delay

KW - exome sequencing

KW - genomics

KW - intellectual disability

KW - neurodevelopment

KW - Humans

KW - Male

KW - Nervous System Malformations/genetics

KW - Genetic Variation/genetics

KW - Haploinsufficiency/genetics

KW - Developmental Disabilities/genetics

KW - Receptors, CCR4/genetics

KW - Nuclear Receptor Subfamily 4, Group A, Member 2/genetics

KW - Female

KW - Protein Stability

KW - Transcription Factors/genetics

KW - RNA/genetics

KW - Phenotype

KW - Alleles

KW - Heterozygote

KW - Gene Expression/genetics

KW - Neurodevelopmental Disorders/genetics

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U2 - 10.1016/j.ajhg.2020.05.017

DO - 10.1016/j.ajhg.2020.05.017

M3 - Article

C2 - 32553196

SN - 0002-9297

VL - 107

SP - 164

EP - 172

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 1

ER -

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

ASJC Scopus Subject Areas

Keywords

Access to Document

OpenUrl availability

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