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VPS53-Related Pontocerebellar Hypoplasia Type 2E

VPS53-Related Pontocerebellar Hypoplasia Type 2E Deep Research Fallback

⚠️ Fallback MONDO:0014370

VPS53-Related Pontocerebellar Hypoplasia Type 2E Deep Research Fallback

Scope

No provider-generated deep research artifact was present on the WP-068 branch. This fallback audit documents the literature scope used to curate and review the VPS53-related entry from cached PubMed references.

Evidence Scope Used For Curation

  • PMID:24577744 for the VPS53/PCCA2 discovery report, autosomal recessive segregation, GARP-complex retrograde transport biology, patient fibroblast CD63-positive vesicular-body abnormalities, and the neurologic phenotype of profound developmental impairment, progressive microcephaly, spasticity, and early-onset epilepsy.
  • PMID:26357016 for GARP deficiency causing sphingolipid-intermediate accumulation, altered sterol distribution, lysosomal dysfunction, and sphingolipid abnormalities in PCCA2 patient fibroblasts.
  • PMID:34161137 for the broader GARP-dependent Golgi N- and O-glycosylation defect, including VPS53 knockout effects in human cells.
  • PMID:39842660 for a later VPS53-related PCH2E case with classic neurologic features plus liver disease and deafness.

Curation Conclusions

The supported model is biallelic VPS53 dysfunction causing GARP-complex retrograde-trafficking failure, abnormal endosomal vesicular bodies, downstream sphingolipid/lysosomal disruption, and Golgi glycoprotein-processing defects. The phenotype set should cover progressive microcephaly, epilepsy, pontocerebellar/cerebello-cerebral involvement, severe neurodevelopmental impairment, spasticity, and the reported hepatic and hearing extension features.