Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy Article Swipe
Najim Lahrouchi
,
Alex V. Postma
,
Christian Salazar
,
Daniel M. De Laughter
,
Fleur V.Y. Tjong
,
Lenka Piherová
,
Forrest Z. Bowling
,
Dominic S. Zimmerman
,
Elisabeth M. Lodder
,
Asaf Ta‐Shma
,
Zeev Perles
,
Leander Beekman
,
Aho Ilgun
,
Quinn D. Gunst
,
Mariam Hababa
,
Doris Škorić‐Milosavljević
,
Viktor Stránecký
,
Viktor Tomek
,
Peter de Knijff
,
Rick de Leeuw
,
Jamille Y. Robinson
,
Sabrina C. Burn
,
Hiba J. Mustafa
,
Matthew Ambrose
,
Timothy Moss
,
Jennifer Jacober
,
Dmitriy Niyazov
,
Barry Wolf
,
Katherine H. Kim
,
Sara Cherny
,
Andreas Rousounides
,
Aphrodite Aristidou-Kallika
,
George A. Tanteles
,
Bruel Ange-Line
,
Anne‐Sophie Denommé‐Pichon
,
Christine Francannet
,
Damara Ortiz
,
Monique C. Haak
,
Arend D.J. ten Harkel
,
G. T. R. Manten
,
Annemiek C. Dutman
,
Katelijne Bouman
,
Monia Magliozzi
,
Francesca Clementina Radio
,
Gijs W.E. Santen
,
Johanna C. Herkert
,
H. Alex Brown
,
Orly Elpeleg
,
Maurice J.B. van den Hoff
,
Barbara J.M. Mulder
,
Michael V. Airola
,
Stanislav Kmoch
,
Joey V. Barnett
,
Sally-Ann B. Clur
,
Michael A. Frohman
,
Connie R. Bezzina
·
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1172/jci142148
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1172/jci142148
Congenital heart disease is the most common type of birth defect, accounting for one-third of all congenital anomalies. Using whole-exome sequencing of 2718 patients with congenital heart disease and a search in GeneMatcher, we identified 30 patients from 21 unrelated families of different ancestries with biallelic phospholipase D1 (PLD1) variants who presented predominantly with congenital cardiac valve defects. We also associated recessive PLD1 variants with isolated neonatal cardiomyopathy. Furthermore, we established that p.I668F is a founder variant among Ashkenazi Jews (allele frequency of ~2%) and describe the phenotypic spectrum of PLD1-associated congenital heart defects. PLD1 missense variants were overrepresented in regions of the protein critical for catalytic activity, and, correspondingly, we observed a strong reduction in enzymatic activity for most of the mutant proteins in an enzymatic assay. Finally, we demonstrate that PLD1 inhibition decreased endothelial-mesenchymal transition, an established pivotal early step in valvulogenesis. In conclusion, our study provides a more detailed understanding of disease mechanisms and phenotypic expression associated with PLD1 loss of function.
Related Topics
Concepts
Missense mutation
Phenotype
Cardiomyopathy
Exome sequencing
Heart disease
Biology
Internal medicine
Genetics
Medicine
Heart failure
Gene
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1172/jci142148
- http://www.jci.org/articles/view/142148/files/pdf
- OA Status
- bronze
- Cited By
- 26
- References
- 47
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3134525970
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W3134525970Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1172/jci142148Digital Object Identifier
- Title
-
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathyWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2021Year of publication
- Publication date
-
2021-02-28Full publication date if available
- Authors
-
Najim Lahrouchi, Alex V. Postma, Christian Salazar, Daniel M. De Laughter, Fleur V.Y. Tjong, Lenka Piherová, Forrest Z. Bowling, Dominic S. Zimmerman, Elisabeth M. Lodder, Asaf Ta‐Shma, Zeev Perles, Leander Beekman, Aho Ilgun, Quinn D. Gunst, Mariam Hababa, Doris Škorić‐Milosavljević, Viktor Stránecký, Viktor Tomek, Peter de Knijff, Rick de Leeuw, Jamille Y. Robinson, Sabrina C. Burn, Hiba J. Mustafa, Matthew Ambrose, Timothy Moss, Jennifer Jacober, Dmitriy Niyazov, Barry Wolf, Katherine H. Kim, Sara Cherny, Andreas Rousounides, Aphrodite Aristidou-Kallika, George A. Tanteles, Bruel Ange-Line, Anne‐Sophie Denommé‐Pichon, Christine Francannet, Damara Ortiz, Monique C. Haak, Arend D.J. ten Harkel, G. T. R. Manten, Annemiek C. Dutman, Katelijne Bouman, Monia Magliozzi, Francesca Clementina Radio, Gijs W.E. Santen, Johanna C. Herkert, H. Alex Brown, Orly Elpeleg, Maurice J.B. van den Hoff, Barbara J.M. Mulder, Michael V. Airola, Stanislav Kmoch, Joey V. Barnett, Sally-Ann B. Clur, Michael A. Frohman, Connie R. BezzinaList of authors in order
- Landing page
-
https://doi.org/10.1172/jci142148Publisher landing page
- PDF URL
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https://www.jci.org/articles/view/142148/files/pdfDirect link to full text PDF
- Open access
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YesWhether a free full text is available
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bronzeOpen access status per OpenAlex
- OA URL
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https://www.jci.org/articles/view/142148/files/pdfDirect OA link when available
- Concepts
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Missense mutation, Phenotype, Cardiomyopathy, Exome sequencing, Heart disease, Biology, Internal medicine, Genetics, Medicine, Heart failure, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
26Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 5, 2024: 6, 2023: 6, 2022: 8, 2021: 1Per-year citation counts (last 5 years)
- References (count)
-
47Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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