Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations Article Swipe
Elizabeth A. Werren
,
Emily Peirent
,
Henna Jäntti
,
Alba Guxholli
,
Kinshuk Raj Srivastava
,
Naama Orenstein
,
Vinodh Narayanan
,
Wojciech Wiszniewski
,
Mateusz Dawidziuk
,
Paweł Gawliński
,
Muhammad Umair
,
Amjad Khan
,
Shahid Niaz Khan
,
David Geneviève
,
Daphné Lehalle
,
Koen L.I. van Gassen
,
Jacques C. Giltay
,
Renske Oegema
,
Richard H. van Jaarsveld
,
Rafiullah Rafiullah
,
Gudrun Rappold
,
Rachel Rabin
,
John Pappas
,
Marsha M. Wheeler
,
Michael J. Bamshad
,
Yao-Chang Tsan
,
Matthew B. Johnson
,
Catherine E. Keegan
,
Anshika Srivastava
,
Stephanie Bielas
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1038/s41419-024-06768-6
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1038/s41419-024-06768-6
CSMD1 ( Cub and Sushi Multiple Domains 1 ) is a well-recognized regulator of the complement cascade, an important component of the innate immune response. CSMD1 is highly expressed in the central nervous system (CNS) where emergent functions of the complement pathway modulate neural development and synaptic activity. While a genetic risk factor for neuropsychiatric disorders, the role of CSMD1 in neurodevelopmental disorders is unclear. Through international variant sharing, we identified inherited biallelic CSMD1 variants in eight individuals from six families of diverse ancestry who present with global developmental delay, intellectual disability, microcephaly, and polymicrogyria. We modeled CSMD1 loss-of-function (LOF) pathogenesis in early-stage forebrain organoids differentiated from CSMD1 knockout human embryonic stem cells (hESCs). We show that CSMD1 is necessary for neuroepithelial cytoarchitecture and synchronous differentiation. In summary, we identified a critical role for CSMD1 in brain development and biallelic CSMD1 variants as the molecular basis of a previously undefined neurodevelopmental disorder.
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- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1038/s41419-024-06768-6
- https://www.nature.com/articles/s41419-024-06768-6.pdf
- OA Status
- gold
- Cited By
- 17
- References
- 51
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4399174242
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Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4399174242Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1038/s41419-024-06768-6Digital Object Identifier
- Title
-
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformationsWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2024Year of publication
- Publication date
-
2024-05-30Full publication date if available
- Authors
-
Elizabeth A. Werren, Emily Peirent, Henna Jäntti, Alba Guxholli, Kinshuk Raj Srivastava, Naama Orenstein, Vinodh Narayanan, Wojciech Wiszniewski, Mateusz Dawidziuk, Paweł Gawliński, Muhammad Umair, Amjad Khan, Shahid Niaz Khan, David Geneviève, Daphné Lehalle, Koen L.I. van Gassen, Jacques C. Giltay, Renske Oegema, Richard H. van Jaarsveld, Rafiullah Rafiullah, Gudrun Rappold, Rachel Rabin, John Pappas, Marsha M. Wheeler, Michael J. Bamshad, Yao-Chang Tsan, Matthew B. Johnson, Catherine E. Keegan, Anshika Srivastava, Stephanie BielasList of authors in order
- Landing page
-
https://doi.org/10.1038/s41419-024-06768-6Publisher landing page
- PDF URL
-
https://www.nature.com/articles/s41419-024-06768-6.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://www.nature.com/articles/s41419-024-06768-6.pdfDirect OA link when available
- Concepts
-
Biology, Forebrain, Neurodevelopmental disorder, Neuroscience, Microcephaly, Intellectual disability, Joubert syndrome, Haploinsufficiency, Polymicrogyria, Corticogenesis, Rett syndrome, Genetics, Central nervous system, Embryonic stem cell, Epilepsy, Phenotype, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
17Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 13, 2024: 4Per-year citation counts (last 5 years)
- References (count)
-
51Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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