Mono and biallelic variants inHCN2cause severe neurodevelopmental disorders Article Swipe
Clara Houdayer
,
A. Marie Phillips
,
Marie Chabbert
,
Jennifer Bourreau
,
Reza Maroofian
,
Henry Houlden
,
Kay Richards
,
Nebal Waill Saadi
,
Eliška Dad’ová
,
Patrick Van Bogaert
,
Mailys Rupin
,
Boris Keren
,
Perrine Charles
,
Thomas Smol
,
Audrey Riquet
,
Lynn Pais
,
Anne O’Donnell‐Luria
,
Grace E. VanNoy
,
Allan Bayat
,
Rikke S. Møller
,
Kern Olofsson
,
Rami Abou Jamra
,
Steffen Syrbe
,
Majed Dasouki
,
Laurie H. Seaver
,
Jennifer A. Sullivan
,
Vandana Shashi
,
Fowzan S. Alkuraya
,
Alexis F. Poss
,
J. Edward Spence
,
Rhonda E. Schnur
,
Ian C. Forster
,
Chaseley E. McKenzie
,
Cas Simons
,
Min Wang
,
Penny Snell
,
Kavitha Kothur
,
Michael F. Buckley
,
Tony Roscioli
,
Noha Elserafy
,
Benjamin Dauriat
,
Vincent Procaccio
,
Daniel Henrion
,
Guy Lenaers
,
Estelle Colin
,
Nienke E. Verbeek
,
Koen L.I. van Gassen
,
C. Legendre
,
Dominique Bonneau
,
Christopher A. Reid
,
Katherine B. Howell
,
Alban Ziegler
,
Christian Legros
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1101/2024.03.19.24303984
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1101/2024.03.19.24303984
Hyperpolarization activated Cyclic Nucleotide (HCN) gated channels are crucial for various neurophysiological functions, including learning and sensory functions, and their dysfunction are responsible for brain disorders, such as epilepsy. To date, HCN2 variants have only been associated with mild epilepsy and recently, one monoallelic missense variant has been linked to developmental and epileptic encephalopathy. Here, we expand the phenotypic spectrum of HCN2- related disorders by describing twenty-one additional individuals from fifteen unrelated families carrying HCN2 variants. Seventeen individuals had developmental delay/intellectual disability (DD/ID), two had borderline DD/ID, and one had borderline DD. Ten individuals had epilepsy with DD/ID, with median age of onset of 10 months, and one had epilepsy with normal development. Molecular diagnosis identified thirteen different pathogenic HCN2 variants, including eleven missense variants affecting highly conserved amino acids, one frameshift variant, and one in-frame deletion. Seven variants were monoallelic of which five occurred de novo, one was not maternally inherited, one was inherited from a father with mild learning disabilities, and one was of unknown inheritance. The remaining six variants were biallelic, with four homozygous and two compound heterozygous variants. Functional studies using two-electrode voltage-clamp recordings in Xenopus laevis oocytes were performed on three monoallelic variants, p.(Arg324His), p.(Ala363Val), and p.(Met374Leu), and three biallelic variants, p.(Leu377His), p.(Pro493Leu) and p.(Gly587Asp). The p.(Arg324His) variant induced a strong increase of HCN2 conductance, while p.(Ala363Val) and p.(Met374Leu) displayed dominant negative effects, leading to a partial loss of HCN2 channel function. By confocal imaging, we found that the p.(Leu377His), p.(Pro493Leu) and p.(Gly587Asp) pathogenic variants impaired membrane trafficking, resulting in a complete loss of HCN2 elicited currents in Xenopus oocytes. Structural 3D-analysis in depolarized and hyperpolarized states of HCN2 channels, revealed that the pathogenic variants p.(His205Gln), p.(Ser409Leu), p.(Arg324Cys), p.(Asn369Ser) and p.(Gly460Asp) modify molecular interactions altering HCN2 function. Taken together, our data broadens the clinical spectrum associated with HCN2 variants, and disclose that HCN2 is involved in developmental encephalopathy with or without epilepsy.
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- Type
- preprint
- Language
- en
- Landing Page
- https://doi.org/10.1101/2024.03.19.24303984
- https://www.medrxiv.org/content/medrxiv/early/2024/03/22/2024.03.19.24303984.full.pdf
- OA Status
- green
- Cited By
- 1
- References
- 49
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4393078102
All OpenAlex metadata
Raw OpenAlex JSON
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https://openalex.org/W4393078102Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1101/2024.03.19.24303984Digital Object Identifier
- Title
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Mono and biallelic variants inHCN2cause severe neurodevelopmental disordersWork title
- Type
-
preprintOpenAlex work type
- Language
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enPrimary language
- Publication year
-
2024Year of publication
- Publication date
-
2024-03-22Full publication date if available
- Authors
-
Clara Houdayer, A. Marie Phillips, Marie Chabbert, Jennifer Bourreau, Reza Maroofian, Henry Houlden, Kay Richards, Nebal Waill Saadi, Eliška Dad’ová, Patrick Van Bogaert, Mailys Rupin, Boris Keren, Perrine Charles, Thomas Smol, Audrey Riquet, Lynn Pais, Anne O’Donnell‐Luria, Grace E. VanNoy, Allan Bayat, Rikke S. Møller, Kern Olofsson, Rami Abou Jamra, Steffen Syrbe, Majed Dasouki, Laurie H. Seaver, Jennifer A. Sullivan, Vandana Shashi, Fowzan S. Alkuraya, Alexis F. Poss, J. Edward Spence, Rhonda E. Schnur, Ian C. Forster, Chaseley E. McKenzie, Cas Simons, Min Wang, Penny Snell, Kavitha Kothur, Michael F. Buckley, Tony Roscioli, Noha Elserafy, Benjamin Dauriat, Vincent Procaccio, Daniel Henrion, Guy Lenaers, Estelle Colin, Nienke E. Verbeek, Koen L.I. van Gassen, C. Legendre, Dominique Bonneau, Christopher A. Reid, Katherine B. Howell, Alban Ziegler, Christian LegrosList of authors in order
- Landing page
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https://doi.org/10.1101/2024.03.19.24303984Publisher landing page
- PDF URL
-
https://www.medrxiv.org/content/medrxiv/early/2024/03/22/2024.03.19.24303984.full.pdfDirect link to full text PDF
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YesWhether a free full text is available
- OA status
-
greenOpen access status per OpenAlex
- OA URL
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https://www.medrxiv.org/content/medrxiv/early/2024/03/22/2024.03.19.24303984.full.pdfDirect OA link when available
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Neurodevelopmental disorder, Medicine, Genetics, Psychiatry, Biology, AutismTop concepts (fields/topics) attached by OpenAlex
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1Total citation count in OpenAlex
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2025: 1Per-year citation counts (last 5 years)
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- Related works (count)
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10Other works algorithmically related by OpenAlex
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