Evidence map›Paper›PMID 42196371›Full record

ArticleInternational journal of molecular sciences2026

Genetic and Clinical Characterization of TANGO2 Deficiency Disorder: Insights from the Italian Multicentre Cohort.

Emanuela Claudia Turco, Giulia Pisanò, Laura Caiazza, Silvia Carestiato, Benedetta Piccolo, Simona Fecarotta, Francesca Pochiero, Federica Ricci, Alfredo Brusco, Giovanni Battista Ferrero and 3 more

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2026. 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
–field-weighted citation impact
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.

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

13 authors.

Emanuela Claudia TurcoChild Neuropsychiatric Unit, Maternal and Child Health Department, Parma University-Hospital, 43126 Parma, Italy.ORCID 0000-0002-4896-1164
Giulia PisanòChild Neurology and Psychiatry Unit, Department of Pediatrics, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.ORCID 0009-0005-2730-2791
Laura CaiazzaDepartment of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.ORCID 0009-0008-5183-0246
Silvia CarestiatoDepartment of Neuroscience "Rita Levi-Montalcini", University of Turin, 10124 Torino, Italy.
Benedetta PiccoloChild Neuropsychiatric Unit, Maternal and Child Health Department, Parma University-Hospital, 43126 Parma, Italy.ORCID 0000-0002-2919-7447
Simona FecarottaSection of Pediatrics, Metabolic Diseases Unit, Department of Translational Medical Science, Federico II University of Naples, 80131 Naples, Italy.
Francesca PochieroMetabolic Disease Unit, Neuroscience Department, Meyer Children Hospital, 50139 Florence, Italy.
Federica RicciNeuromuscular Center, AOU Città della Salute e della Scienza, University of Turin, 10126 Torino, Italy.ORCID 0000-0003-2019-612X
Alfredo BruscoDepartment of Neuroscience "Rita Levi-Montalcini", University of Turin, 10124 Torino, Italy.ORCID 0000-0002-8318-7231
Giovanni Battista FerreroDepartment of Clinical and Biological Sciences, University of Turin, 10043 Orbassano, Italy.
Susanna EspositoPediatric Clinic, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.ORCID 0000-0003-4103-2837
Carlo FuscoChild Neurology and Psychiatry Unit, Department of Pediatrics, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.ORCID 0000-0001-9321-0952
Maria Carmela PeraChild Neuropsychiatry Unit, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.ORCID 0000-0001-6777-1721

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

TANGO2-deficiency disorder (TDD) is a rare autosomal recessive condition characterised by neurodevelopmental delay, TANGO2 spells, life-threatening metabolic crises, and cardiac arrhythmias. Genotype-phenotype correlations remain poorly defined and the neurobehavioural profile of affected individuals is largely unexplored. We conducted a retrospective multicentre study of five Italian patients with genetically confirmed TDD, identified between June 2023 and May 2025. Clinical, neurophysiological, neuroimaging, genetic, and neurodevelopmental data were collected. Adaptive functioning, cognitive ability, and behavioural profiles were assessed using standardised instruments. All five patients carried biallelic

Indexed as

Developmental DisabilitiesNeurodevelopmental DisordersChildChild, PreschoolFemaleGenetic Association StudiesHumansInfantItalyMaleMutationPhenotypeRetrospective Studiesgenotype–phenotype correlationmetabolic crisisneurodevelopmental delayrare genetic diseaseTANGO2

Identifiers

PMID42196371
PMCPMC13207614

What Socratic holds

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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 Socratic graph.