Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size Article Swipe
Diana Le Duc
,
Cecilia Giulivi
,
Susan M. Hiatt
,
Eleonora Napoli
,
Alexios A. Panoutsopoulos
,
Angelo Harlan De Crescenzo
,
Urania Kotzaeridou
,
Steffen Syrbe
,
Evdokia Anagnostou
,
Meron Azage
,
Renee Bend
,
Amber Begtrup
,
Natasha J. Brown
,
Benjamin Büttner
,
Megan T. Cho
,
Gregory M. Cooper
,
Jan H Doering
,
Christèle Dubourg
,
David B. Everman
,
Michael S. Hildebrand
,
Francis Jeshira Reynoso Santos
,
Barbara Kellam
,
Jennifer Keller‐Ramey
,
Johannes R. Lemke
,
Shuxi Liu
,
Dmitriy Niyazov
,
Katelyn Payne
,
Richard Person
,
Chloé Quēlin
,
Rhonda E. Schnur
,
Brooke Smith
,
Jonathan B. Strober
,
Susan Walker
,
Mathew Wallis
,
Laurence E. Walsh
,
Sandra Yang
,
Ryan K. C. Yuen
,
Andreas Ziegler
,
Heinrich Sticht
,
Michael C. Pride
,
Lori Orosco
,
Verónica Martínez‐Cerdeño
,
Jill L. Silverman
,
Jacqueline N. Crawley
,
Stephen W. Scherer
,
Konstantinos S. Zarbalis
,
Rami Abou Jamra
·
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1093/brain/awz198
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1093/brain/awz198
The underpinnings of mild to moderate neurodevelopmental delay remain elusive, often leading to late diagnosis and interventions. Here, we present data on exome and genome sequencing as well as array analysis of 13 individuals that point to pathogenic, heterozygous, mostly de novo variants in WDFY3 (significant de novo enrichment P = 0.003) as a monogenic cause of mild and non-specific neurodevelopmental delay. Nine variants were protein-truncating and four missense. Overlapping symptoms included neurodevelopmental delay, intellectual disability, macrocephaly, and psychiatric disorders (autism spectrum disorders/attention deficit hyperactivity disorder). One proband presented with an opposing phenotype of microcephaly and the only missense-variant located in the PH-domain of WDFY3. Findings of this case are supported by previously published data, demonstrating that pathogenic PH-domain variants can lead to microcephaly via canonical Wnt-pathway upregulation. In a separate study, we reported that the autophagy scaffolding protein WDFY3 is required for cerebral cortical size regulation in mice, by controlling proper division of neural progenitors. Here, we show that proliferating cortical neural progenitors of human embryonic brains highly express WDFY3, further supporting a role for this molecule in the regulation of prenatal neurogenesis. We present data on Wnt-pathway dysregulation in Wdfy3-haploinsufficient mice, which display macrocephaly and deficits in motor coordination and associative learning, recapitulating the human phenotype. Consequently, we propose that in humans WDFY3 loss-of-function variants lead to macrocephaly via downregulation of the Wnt pathway. In summary, we present WDFY3 as a novel gene linked to mild to moderate neurodevelopmental delay and intellectual disability and conclude that variants putatively causing haploinsufficiency lead to macrocephaly, while an opposing pathomechanism due to variants in the PH-domain of WDFY3 leads to microcephaly.
Related Topics
Concepts
Macrocephaly
Microcephaly
Neurodevelopmental disorder
Intellectual disability
Missense mutation
Autism
Proband
Biology
Exome sequencing
Wnt signaling pathway
Phenotype
Haploinsufficiency
Genetics
Loss function
Neuroscience
Mutation
Medicine
Gene
Psychiatry
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1093/brain/awz198
- https://academic.oup.com/brain/article-pdf/142/9/2617/29222524/awz198.pdf
- OA Status
- bronze
- Cited By
- 50
- References
- 51
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2962917566
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W2962917566Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1093/brain/awz198Digital Object Identifier
- Title
-
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain sizeWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2019Year of publication
- Publication date
-
2019-06-15Full publication date if available
- Authors
-
Diana Le Duc, Cecilia Giulivi, Susan M. Hiatt, Eleonora Napoli, Alexios A. Panoutsopoulos, Angelo Harlan De Crescenzo, Urania Kotzaeridou, Steffen Syrbe, Evdokia Anagnostou, Meron Azage, Renee Bend, Amber Begtrup, Natasha J. Brown, Benjamin Büttner, Megan T. Cho, Gregory M. Cooper, Jan H Doering, Christèle Dubourg, David B. Everman, Michael S. Hildebrand, Francis Jeshira Reynoso Santos, Barbara Kellam, Jennifer Keller‐Ramey, Johannes R. Lemke, Shuxi Liu, Dmitriy Niyazov, Katelyn Payne, Richard Person, Chloé Quēlin, Rhonda E. Schnur, Brooke Smith, Jonathan B. Strober, Susan Walker, Mathew Wallis, Laurence E. Walsh, Sandra Yang, Ryan K. C. Yuen, Andreas Ziegler, Heinrich Sticht, Michael C. Pride, Lori Orosco, Verónica Martínez‐Cerdeño, Jill L. Silverman, Jacqueline N. Crawley, Stephen W. Scherer, Konstantinos S. Zarbalis, Rami Abou JamraList of authors in order
- Landing page
-
https://doi.org/10.1093/brain/awz198Publisher landing page
- PDF URL
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https://academic.oup.com/brain/article-pdf/142/9/2617/29222524/awz198.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
bronzeOpen access status per OpenAlex
- OA URL
-
https://academic.oup.com/brain/article-pdf/142/9/2617/29222524/awz198.pdfDirect OA link when available
- Concepts
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Macrocephaly, Microcephaly, Neurodevelopmental disorder, Intellectual disability, Missense mutation, Autism, Proband, Biology, Exome sequencing, Wnt signaling pathway, Phenotype, Haploinsufficiency, Genetics, Loss function, Neuroscience, Mutation, Medicine, Gene, PsychiatryTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
50Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 8, 2024: 8, 2023: 11, 2022: 9, 2021: 7Per-year citation counts (last 5 years)
- References (count)
-
51Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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