A Report of a Child with SEC31A-Related Neurodevelopmental Disorder Article Swipe
Ruqaiah Altassan
,
Hanan AlQudairy
,
Biam Saydo
,
Aseel Alammari
,
Kelly J. Cardona Londoño
,
Khushnooda Ramzan
,
Dilek Çolak
,
Stefan T. Arold
,
Namik Kaya
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.3390/ijms26115296
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.3390/ijms26115296
SEC31A-related neurodevelopmental disorder (Halperin–Birk syndrome) was recently identified in two siblings who shared the phenotype of profound developmental delay, structural brain defects, spastic quadriplegia with multiple contractures, seizures, dysmorphism, and optic nerve atrophy. Both patients died during childhood. In this study, we identified an additional patient who suffers from global developmental delay and seizures. Genetic analysis inclusive of whole exome and genome sequencing identified a homoallelic variant in the SEC31A (p.Cys453Trp). Various in silico classifiers predicted a deleterious effect of the replacement of cystein with tryptophan at the 453rd position. Protein–protein interaction (PPI) network analysis of SEC31A revealed high-confidence interactions with SEC13, SEC23A, and SEC23B, suggesting potential regulatory roles in these processes. Structural analysis of the SEC31A–SEC13 interaction and the Cys453Trp mutant in SEC31A predicted that the stability of coat protein complex II would be compromised. Our findings support the clinical correlation of SEC31A variants with neurodevelopmental disorder.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3390/ijms26115296
- https://www.mdpi.com/1422-0067/26/11/5296/pdf?version=1748621779
- OA Status
- gold
- References
- 50
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4410953978
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4410953978Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.3390/ijms26115296Digital Object Identifier
- Title
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A Report of a Child with SEC31A-Related Neurodevelopmental DisorderWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2025Year of publication
- Publication date
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2025-05-30Full publication date if available
- Authors
-
Ruqaiah Altassan, Hanan AlQudairy, Biam Saydo, Aseel Alammari, Kelly J. Cardona Londoño, Khushnooda Ramzan, Dilek Çolak, Stefan T. Arold, Namik KayaList of authors in order
- Landing page
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https://doi.org/10.3390/ijms26115296Publisher landing page
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https://www.mdpi.com/1422-0067/26/11/5296/pdf?version=1748621779Direct link to full text PDF
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YesWhether a free full text is available
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-
goldOpen access status per OpenAlex
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https://www.mdpi.com/1422-0067/26/11/5296/pdf?version=1748621779Direct OA link when available
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Neurodevelopmental disorder, Medicine, Psychology, Psychiatry, AutismTop concepts (fields/topics) attached by OpenAlex
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0Total citation count in OpenAlex
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50Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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