Heterozygous variants in AP4S1 are not associated with a neurological phenotype
Article Swipe
Vicente Quiroz
,
Umar Zubair
,
Luca Schierbaum
,
Amy Tam
,
Nicole Battaglia
,
Junkang Rong
,
Habibah A.P. Agianda
,
Julian E. Alecu
,
Kathryn Yang
,
Darius Ebrahimi‐Fakhari
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1002/acn3.52302
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1002/acn3.52302
Biallelic loss‐of‐function variants in AP4S1 cause childhood‐onset hereditary spastic paraplegia. A recent report suggested that heterozygous AP4S1 variants lead to a syndrome of lower limb spasticity and dysregulation of sphincter function. We critically evaluate this claim against clinical observations in 28 heterozygous carriers of the same AP4S1 variant (NM_007077.3: c.289C>T, p.Arg97Ter). In these 14 males and 14 females (mean age: 37.6 ± 4.9 years [SD], range: 30–50 years), we ascertain no increased prevalence of neurological manifestations. Alternative causes should be considered when evaluating patients with heterozygous AP4S1 variants and neurological symptoms, as misattribution of pathogenicity can impact clinical care and genetic counseling.
Related Topics
Concepts
Medicine
Hereditary spastic paraplegia
Heterozygote advantage
Spasticity
Phenotype
Allele
Compound heterozygosity
Loss function
Paraplegia
Pediatrics
Genetics
Physical therapy
Gene
Spinal cord
Psychiatry
Biology
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1002/acn3.52302
- OA Status
- gold
- References
- 10
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4406848076
All OpenAlex metadata
Raw OpenAlex JSON
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https://openalex.org/W4406848076Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1002/acn3.52302Digital Object Identifier
- Title
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Heterozygous variants in
AP4S1 are not associated with a neurological phenotypeWork 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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2025-01-27Full publication date if available
- Authors
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Vicente Quiroz, Umar Zubair, Luca Schierbaum, Amy Tam, Nicole Battaglia, Junkang Rong, Habibah A.P. Agianda, Julian E. Alecu, Kathryn Yang, Darius Ebrahimi‐FakhariList of authors in order
- Landing page
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https://doi.org/10.1002/acn3.52302Publisher landing page
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YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
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https://doi.org/10.1002/acn3.52302Direct OA link when available
- Concepts
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Medicine, Hereditary spastic paraplegia, Heterozygote advantage, Spasticity, Phenotype, Allele, Compound heterozygosity, Loss function, Paraplegia, Pediatrics, Genetics, Physical therapy, Gene, Spinal cord, Psychiatry, BiologyTop concepts (fields/topics) attached by OpenAlex
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0Total citation count in OpenAlex
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10Other works algorithmically related by OpenAlex
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