Research ExplorerPublicationsMutations in SMARCB1 and in other Coffin-Siris syndrome gene...

Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects

Standard

Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects. / Filatova, Alina; Rey, Linda K; Lechler, Marion B; Schaper, Jörg; Hempel, Maja; Posmyk, Renata; Szczaluba, Krzysztof; Santen, Gijs W E; Wieczorek, Dagmar; Nuber, Ulrike A.

In: NAT COMMUN, Vol. 10, No. 1, 04.07.2019, p. 2966.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Filatova, A, Rey, LK, Lechler, MB, Schaper, J, Hempel, M, Posmyk, R, Szczaluba, K, Santen, GWE, Wieczorek, D & Nuber, UA 2019, 'Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects', NAT COMMUN, vol. 10, no. 1, pp. 2966. https://doi.org/10.1038/s41467-019-10849-y

APA

Filatova, A., Rey, L. K., Lechler, M. B., Schaper, J., Hempel, M., Posmyk, R., Szczaluba, K., Santen, G. W. E., Wieczorek, D., & Nuber, U. A. (2019). Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects. NAT COMMUN, 10(1), 2966. https://doi.org/10.1038/s41467-019-10849-y

Vancouver

Filatova A, Rey LK, Lechler MB, Schaper J, Hempel M, Posmyk R et al. Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects. NAT COMMUN. 2019 Jul 4;10(1):2966. https://doi.org/10.1038/s41467-019-10849-y

Bibtex

@article{323099cfc9564e0eb708bc79862b9e5f,
title = "Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects",
abstract = "Mutations in genes encoding components of BAF (BRG1/BRM-associated factor) chromatin remodeling complexes cause neurodevelopmental disorders and tumors. The mechanisms leading to the development of these two disease entities alone or in combination remain unclear. We generated mice with a heterozygous nervous system-specific partial loss-of-function mutation in a BAF core component gene, Smarcb1. These Smarcb1 mutant mice show various brain midline abnormalities that are also found in individuals with Coffin-Siris syndrome (CSS) caused by SMARCB1, SMARCE1, and ARID1B mutations and in SMARCB1-related intellectual disability (ID) with choroid plexus hyperplasia (CPH). Analyses of the Smarcb1 mutant animals indicate that one prominent midline abnormality, corpus callosum agenesis, is due to midline glia aberrations. Our results establish a novel role of Smarcb1 in the development of the brain midline and have important clinical implications for BAF complex-related ID/neurodevelopmental disorders.",
keywords = "Abnormalities, Multiple/diagnostic imaging, Agenesis of Corpus Callosum/diagnostic imaging, Alleles, Animals, Child, Child, Preschool, Corpus Callosum/cytology, Disease Models, Animal, Embryo, Mammalian, Face/abnormalities, Female, Hand Deformities, Congenital/diagnostic imaging, Humans, Infant, Intellectual Disability/diagnostic imaging, Loss of Function Mutation, Magnetic Resonance Imaging, Male, Mice, Mice, Transgenic, Micrognathism/diagnostic imaging, Neck/abnormalities, Neuroglia/pathology, Primary Cell Culture, SMARCB1 Protein/genetics",
author = "Alina Filatova and Rey, {Linda K} and Lechler, {Marion B} and J{\"o}rg Schaper and Maja Hempel and Renata Posmyk and Krzysztof Szczaluba and Santen, {Gijs W E} and Dagmar Wieczorek and Nuber, {Ulrike A}",
year = "2019",
month = jul,
day = "4",
doi = "10.1038/s41467-019-10849-y",
language = "English",
volume = "10",
pages = "2966",
journal = "NAT COMMUN",
issn = "2041-1723",
publisher = "NATURE PUBLISHING GROUP",
number = "1",

}

RIS

TY - JOUR

T1 - Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects

AU - Filatova, Alina

AU - Rey, Linda K

AU - Lechler, Marion B

AU - Schaper, Jörg

AU - Hempel, Maja

AU - Posmyk, Renata

AU - Szczaluba, Krzysztof

AU - Santen, Gijs W E

AU - Wieczorek, Dagmar

AU - Nuber, Ulrike A

PY - 2019/7/4

Y1 - 2019/7/4

N2 - Mutations in genes encoding components of BAF (BRG1/BRM-associated factor) chromatin remodeling complexes cause neurodevelopmental disorders and tumors. The mechanisms leading to the development of these two disease entities alone or in combination remain unclear. We generated mice with a heterozygous nervous system-specific partial loss-of-function mutation in a BAF core component gene, Smarcb1. These Smarcb1 mutant mice show various brain midline abnormalities that are also found in individuals with Coffin-Siris syndrome (CSS) caused by SMARCB1, SMARCE1, and ARID1B mutations and in SMARCB1-related intellectual disability (ID) with choroid plexus hyperplasia (CPH). Analyses of the Smarcb1 mutant animals indicate that one prominent midline abnormality, corpus callosum agenesis, is due to midline glia aberrations. Our results establish a novel role of Smarcb1 in the development of the brain midline and have important clinical implications for BAF complex-related ID/neurodevelopmental disorders.

AB - Mutations in genes encoding components of BAF (BRG1/BRM-associated factor) chromatin remodeling complexes cause neurodevelopmental disorders and tumors. The mechanisms leading to the development of these two disease entities alone or in combination remain unclear. We generated mice with a heterozygous nervous system-specific partial loss-of-function mutation in a BAF core component gene, Smarcb1. These Smarcb1 mutant mice show various brain midline abnormalities that are also found in individuals with Coffin-Siris syndrome (CSS) caused by SMARCB1, SMARCE1, and ARID1B mutations and in SMARCB1-related intellectual disability (ID) with choroid plexus hyperplasia (CPH). Analyses of the Smarcb1 mutant animals indicate that one prominent midline abnormality, corpus callosum agenesis, is due to midline glia aberrations. Our results establish a novel role of Smarcb1 in the development of the brain midline and have important clinical implications for BAF complex-related ID/neurodevelopmental disorders.

KW - Abnormalities, Multiple/diagnostic imaging

KW - Agenesis of Corpus Callosum/diagnostic imaging

KW - Alleles

KW - Animals

KW - Child

KW - Child, Preschool

KW - Corpus Callosum/cytology

KW - Disease Models, Animal

KW - Embryo, Mammalian

KW - Face/abnormalities

KW - Female

KW - Hand Deformities, Congenital/diagnostic imaging

KW - Humans

KW - Infant

KW - Intellectual Disability/diagnostic imaging

KW - Loss of Function Mutation

KW - Magnetic Resonance Imaging

KW - Male

KW - Mice

KW - Mice, Transgenic

KW - Micrognathism/diagnostic imaging

KW - Neck/abnormalities

KW - Neuroglia/pathology

KW - Primary Cell Culture

KW - SMARCB1 Protein/genetics

U2 - 10.1038/s41467-019-10849-y

DO - 10.1038/s41467-019-10849-y

M3 - SCORING: Journal article

C2 - 31273213

VL - 10

SP - 2966

JO - NAT COMMUN

JF - NAT COMMUN

SN - 2041-1723

IS - 1

ER -