Cohesin complex-associated holoprosencephaly.

Adolescent Animals Cell Cycle Proteins / genetics Child Child, Preschool Chromosomal Proteins, Non-Histone / genetics Female Holoprosencephaly / diagnosis Humans Infant Infant, Newborn Male Mice Mice, Inbred C57BL Cohesins
X-linked inheritance cohesin complex forebrain division holoprosencephaly

Journal

Brain : a journal of neurology
ISSN: 1460-2156
Titre abrégé: Brain
Pays: England
ID NLM: 0372537

Informations de publication

Date de publication:
01 09 2019
Historique:
received: 05 03 2019
revised: 15 05 2019
accepted: 22 05 2019
pubmed: 25 7 2019
medline: 19 5 2020
entrez: 24 7 2019
Statut: ppublish

Résumé

Marked by incomplete division of the embryonic forebrain, holoprosencephaly is one of the most common human developmental disorders. Despite decades of phenotype-driven research, 80-90% of aneuploidy-negative holoprosencephaly individuals with a probable genetic aetiology do not have a genetic diagnosis. Here we report holoprosencephaly associated with variants in the two X-linked cohesin complex genes, STAG2 and SMC1A, with loss-of-function variants in 10 individuals and a missense variant in one. Additionally, we report four individuals with variants in the cohesin complex genes that are not X-linked, SMC3 and RAD21. Using whole mount in situ hybridization, we show that STAG2 and SMC1A are expressed in the prosencephalic neural folds during primary neurulation in the mouse, consistent with forebrain morphogenesis and holoprosencephaly pathogenesis. Finally, we found that shRNA knockdown of STAG2 and SMC1A causes aberrant expression of HPE-associated genes ZIC2, GLI2, SMAD3 and FGFR1 in human neural stem cells. These findings show the cohesin complex as an important regulator of median forebrain development and X-linked inheritance patterns in holoprosencephaly.

Identifiants

DOI: 10.1093/brain/awz210 PMID: 31334757 PMC: PMC7245359
pubmed: 31334757
pii: 5537372
doi: 10.1093/brain/awz210
pmc: PMC7245359
doi:

Substances chimiques

Cell Cycle Proteins 0
Chromosomal Proteins, Non-Histone 0
STAG2 protein, human 0
structural maintenance of chromosome protein 1 0

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, N.I.H., Intramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

2631-2643

Subventions

Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Doris Duke Charitable Foundation
ID : 2012059
Pays : United States
Organisme : NIEHS NIH HHS
ID : T32 ES007015
Pays : United States
Organisme : NIEHS NIH HHS
ID : R01 ES026819
Pays : United States

Commentaires et corrections

Type : CommentIn
Type : CommentIn

Informations de copyright

Published by Oxford University Press on behalf of the Guarantors of Brain 2019. This work is written by US Government employees and is in the public domain in the US.

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Auteurs

Paul Kruszka (P)

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Seth I Berger (SI)

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Valentina Casa (V)

Department of Cell Biology, Erasmus MC, Rotterdam, The Netherlands.

Mike R Dekker (MR)

Department of Cell Biology, Erasmus MC, Rotterdam, The Netherlands.

Jenna Gaesser (J)

Department of Pediatrics, Division of Neurology, University of Pittsburgh, Pittsburgh, PA, USA.

Karin Weiss (K)

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Ariel F Martinez (AF)

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

David R Murdock (DR)

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Raymond J Louie (RJ)

Greenwood Genetic Center, JC Self Research Institute of Human Genetics, Greenwood, SC, USA.

Eloise J Prijoles (EJ)

Greenwood Genetic Center, JC Self Research Institute of Human Genetics, Greenwood, SC, USA.

Angie W Lichty (AW)

Greenwood Genetic Center, JC Self Research Institute of Human Genetics, Greenwood, SC, USA.

Oebele F Brouwer (OF)

Department of Neurology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

Evelien Zonneveld-Huijssoon (E)

Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

Mark J Stephan (MJ)

Department of Pediatrics, University of Washington, Seattle, WA, USA.

Jacob Hogue (J)

Division of Clinical Genetics, Department of Pediatrics, Madigan Army Hospital, Tacoma, WA, USA.

Ping Hu (P)

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Momoko Tanima-Nagai (M)

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Joshua L Everson (JL)

Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI, USA.
Molecular and Environmental Toxicology Center, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, USA.

Chitra Prasad (C)

Children's Health Research Institute, London, ON, Canada.

Anna Cereda (A)

Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.

Maria Iascone (M)

Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.

Allison Schreiber (A)

Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.

Vickie Zurcher (V)

Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.

Nicole Corsten-Janssen (N)

Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

Luis Escobar (L)

Peyton Manning Children's Hospital at St. Vincent, Medical Genetics and Neurodevelopment Center, Indianapolis, IN, USA.

Nancy J Clegg (NJ)

Texas Scottish Rite Hospital for Children, Dallas, TX, USA.

Mauricio R Delgado (MR)

Texas Scottish Rite Hospital for Children, Dallas, TX, USA.
Department of Neurology and Neurotherapeutics UT Southwestern Medical Center Dallas, TX, USA.

Omkar Hajirnis (O)

Pediatric Neurology, Synapses Child Neurology and Development Centre, Thane, Maharashtra, India.

Meena Balasubramanian (M)

Sheffield Clinical Genetics Service, Sheffield Children's, NHS Foundation Trust, Sheffield, UK.
Academic Unit of Child Health, University of Sheffield, Sheffield, UK.

Hülya Kayserili (H)

Medical Genetics, Medical Faculty, Koç University, Istanbul, Turkey.

Matthew Deardorff (M)

The Division of Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
The Department of Pediatrics, The Perelman School of Medicine, The University of Pennsylvania, Philadelphia, PA, USA.

Raymond A Poot (RA)

Department of Cell Biology, Erasmus MC, Rotterdam, The Netherlands.

Kerstin S Wendt (KS)

Department of Cell Biology, Erasmus MC, Rotterdam, The Netherlands.

Robert J Lipinski (RJ)

Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI, USA.
Molecular and Environmental Toxicology Center, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, USA.

Maximilian Muenke (M)

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › Cohesin complex-associated holoprosencephaly.
questionsmedicales.fr › Eucaryotes › Animaux › Cohesin complex-associated holoprosencephaly.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines du cycle cellulaire › Cohesin complex-associated holoprosencephaly.
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Cohesin complex-associated holoprosencephaly.
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › Cohesin complex-associated holoprosencephaly.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Nucléoprotéines › Protéines chromosomiques nonhistones › Cohesin complex-associated holoprosencephaly.
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies chromosomiques › Holoprosencéphalie › Cohesin complex-associated holoprosencephaly.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Cohesin complex-associated holoprosencephaly.
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Cohesin complex-associated holoprosencephaly.
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Nouveau-né › Cohesin complex-associated holoprosencephaly.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Cohesin complex-associated holoprosencephaly.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Lignées consanguines de souris › Souris de lignée C57BL › Cohesin complex-associated holoprosencephaly.