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Article

Heterozygous variants in AP4S1 are not associated with a neurological phenotype.

Annals of clinical and translational neurology - 1 Apr 2025

Quiroz Vicente, Zubair Umar, Schierbaum Luca, Tam Amy, Battaglia Nicole, Rong Joshua, Agianda Habibah A P, Alecu Julian E, Yang Kathryn, Ebrahimi-Fakhari Darius

Abstract excerpt

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...

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Identifiers

PMID: 39865903
DOI: 10.1002/acn3.52302
PMCID: PMC12040498

Genes

AP4S1

Variants

Provenance

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