Evidence map›Paper›PMID 41153445›Full record

ArticleGenes2025

Expanding Clinical and Genetic Landscape of

Verdiana Pullano, Federico Rondot, Ilaria Carelli, Slavica Trajkova, Silvia Carestiato, Simona Cardaropoli, Diana Carli, Elisa Biamino, Fabio Sirchia, Giuseppe Reynolds and 5 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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

15 authors.

Verdiana PullanoDepartment of Neuroscience "Rita Levi Montalcini", University of Torino, 10126 Turin, Italy.ORCID 0000-0002-0409-9832
Federico RondotDepartment of Medical Sciences, University of Torino, 10126 Turin, Italy.ORCID 0000-0002-3162-9771
Ilaria CarelliDepartment of Medical Sciences, University of Torino, 10126 Turin, Italy.ORCID 0009-0006-0859-4036
Slavica TrajkovaDepartment of Neuroscience "Rita Levi Montalcini", University of Torino, 10126 Turin, Italy.ORCID 0000-0002-0178-5327
Silvia CarestiatoDepartment of Neuroscience "Rita Levi Montalcini", University of Torino, 10126 Turin, Italy.ORCID 0000-0001-9475-6586
Simona CardaropoliDepartment of Public Health and Pediatric Sciences, University of Torino, 10126 Turin, Italy.ORCID 0000-0002-8927-8900
Diana CarliDepartment of Medical Sciences, University of Torino, 10126 Turin, Italy.ORCID 0000-0001-5690-6504
Elisa BiaminoDepartment of Public Health and Pediatric Sciences, University of Torino, 10126 Turin, Italy.
Fabio SirchiaDepartment of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.ORCID 0000-0002-4598-2023
Giuseppe ReynoldsDepartment of Public Health and Pediatric Sciences, University of Torino, 10126 Turin, Italy.ORCID 0000-0003-0447-2112
Roberto KellerAdult Autism Centre DSM ASL Città di Torino, 10138 Turin, Italy.ORCID 0000-0002-6873-9827
Elena Shukarova-AngelovskaDepartment of Endocrinology and Genetics, University Clinic for Children's Diseases, Medical Faculty, University Sv. Kiril I Metodij, 1000 Skopje, North Macedonia.
Giovanni Battista FerreroDepartment of Clinical and Biological Sciences, University of Torino, 10149 Orbassano, Italy.ORCID 0000-0002-3793-5788
Alfredo BruscoDepartment of Neuroscience "Rita Levi Montalcini", University of Torino, 10126 Turin, Italy.ORCID 0000-0002-8318-7231
Alessandro MussaDepartment of Public Health and Pediatric Sciences, University of Torino, 10126 Turin, Italy.ORCID 0000-0003-2795-6013

Funding

MIUR project "Dipartimenti di Eccellenza 2023-2027" to the Department of Neurosciences "Rita Levi Montalcini" (University of Turin). NA
6 · The paper itself

Abstract

background

methodsWe present six new cases of SAS with

resultsOur cohort exhibits a broad range of clinical manifestations consistent with SAS, encompassing severe intellectual disability, profound speech delay, various palatal and dental abnormalities. We report the oldest adult patient (56 years old) carrying an in-frame duplication, and a pediatric patient with a missense variant who presented a significant reduction in visual acuity, likely of neurological or cortical origin, in the absence of ophthalmological abnormalities.

conclusionsThis report provides new clinical and genetic insights into the landscape of SAS. Our findings confirm the phenotypic heterogeneity of SAS and highlight the critical role of comprehensive genetic testing for accurate diagnosis in NDD patients.

Indexed as

Craniofacial AbnormalitiesDevelopmental DisabilitiesIntellectual DisabilityMatrix Attachment Region Binding ProteinsNeurodevelopmental DisordersTooth AbnormalitiesTranscription FactorsHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedPhenotypeMatrix Attachment Region Binding ProteinsSATB2 protein, humanTranscription FactorsGlass syndromeneurodevelopmental disordersSATB2

Identifiers

PMID41153445
PMCPMC12563916

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.