Evidence map›Paper›PMID 38674371›Full record

ReviewGenes2024

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

Alessandro Orsini, Andrea Santangelo, Alessandra Carmignani, Anna Camporeale, Francesco Massart, Nina Tyutyusheva, Diego Giampietro Peroni, Thomas Foiadelli, Alessandro Ferretti, Benedetta Toschi and 2 more

Open access · goldAbstract readCase ReportsReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.5field-weighted citation impact, top 39% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 2 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 4 institutions in 1 country.

Alessandro OrsiniPediatric Neurology, Pediatric Department, AOUP Santa Chiara Hospital, 56100 Pisa, Italy.ORCID 0000-0001-5256-6573
Andrea SantangeloPediatric Neurology, Pediatric Department, AOUP Santa Chiara Hospital, 56100 Pisa, Italy.ORCID 0000-0003-2668-6373
Alessandra CarmignaniPediatric Department, AOUP Santa Chiara Hospital, 56100 Pisa, Italy.
Anna CamporealePediatric Department, AOUP Santa Chiara Hospital, 56100 Pisa, Italy.
Francesco MassartPediatric Endocrinology, Pediatric Department, AOUP Santa Chiara Hospital, 56100 Pisa, Italy.
Nina TyutyushevaPediatric Endocrinology, Pediatric Department, AOUP Santa Chiara Hospital, 56100 Pisa, Italy.
Diego Giampietro PeroniPediatric Department, AOUP Santa Chiara Hospital, 56100 Pisa, Italy.ORCID 0000-0002-0234-1373
Thomas FoiadelliClinica Pediatrica, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy.
Alessandro FerrettiPediatrics Unit, Neuroscience, Mental Health and Sense Organs (NESMOS) Department, Faculty of Medicine and Psychology, Sapienza University of Rome, 00185 Rome, Italy.ORCID 0000-0002-3854-9299
Benedetta ToschiDivision of Medical Genetics, Department of Medical and Oncological Area, University-Hospital, 56126 Pisa, Italy.ORCID 0000-0003-4193-4128
Silvia RomanoDivision of Medical Genetics, Department of Medical and Oncological Area, University-Hospital, 56126 Pisa, Italy.
Alice BonuccelliPediatric Neurology, Pediatric Department, AOUP Santa Chiara Hospital, 56100 Pisa, Italy.ORCID 0000-0002-7457-2779
Ospedale Santa Chiara · ITAzienda Ospedaliera Universitaria Pisana · ITPoliclinico San Matteo Fondazione · ITSapienza University of Rome · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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 14-year-old boy born to consanguineous parents, presenting psychomotor delay, severe intellectual disability, microcephaly, and trigonocephaly. Despite a history of febrile seizures, subsequent years were devoid of seizures, with normal EEG. Exome sequencing revealed pathogenic variants in both the

Indexed as

Adaptor Protein Complex 4MutationPeptide Termination FactorsPhenotypeRepressor ProteinsAdolescentCraniosynostosesExome SequencingHumansIntellectual DisabilityMaleMicrocephalyAdaptor Protein Complex 4ERF protein, humanPeptide Termination FactorsRepressor ProteinsAP-4AP-4 deficiency syndromeepilepsyERFERF-related craniosynostosishereditary spastic paraparesis

Identifiers

PMID38674371
PMCPMC11049481
OpenAlexW4393352696

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.