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An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review.

Genes - 29 Mar 2024

Orsini Alessandro, Santangelo Andrea, Carmignani Alessandra, Camporeale Anna, Massart Francesco, Tyutyusheva Nina, Peroni Diego Giampietro, Foiadelli Thomas, Ferretti Alessandro, Toschi Benedetta, Romano Silvia, Bonuccelli Alice

Abstract excerpt

The adaptor protein 4 (AP-4) constitutes a conserved hetero-tetrameric complex within the family of adaptor protein (AP) complex, crucial for the signal-mediated trafficking of integral membrane proteins. Mutations affecting all subunits of the AP-4 complex have been linked to autosomal-recessive cerebral palsy and a complex hereditary spastic paraparesis (HSP) phenotype. Our report details the case of a...

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Identifiers

PMID: 38674371
DOI: 10.3390/genes15040436
PMCID: PMC11049481

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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