Evidence map›Paper›PMID 41465172›Full record

ReviewGenes2025

17q12 Recurrent Deletion Syndrome in Childhood.

Giorgia Ceravolo, Salvatore Mollica, Marco Cavallaro, Ida Ceravolo, Giovanni Sica, Francesca Granata, Henry Houlden, Roberto Chimenz

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

Review 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. Article
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

8 authors.

Giorgia CeravoloDepartment of Clinical and Experimental Medicine, University of Messina, 98122 Messina, Italy.ORCID 0000-0001-5020-0682
Salvatore MollicaDepartment of Clinical and Experimental Medicine, University of Messina, 98122 Messina, Italy.
Marco CavallaroDepartment of Biomedical Sciences and Morphological and Functional Imaging, University of Messina, Policlinico "G. Martino", 98100 Messina, Italy.ORCID 0000-0001-6197-2629
Ida CeravoloDepartment of Clinical and Experimental Medicine, University of Messina, 98122 Messina, Italy.
Giovanni SicaNeonatal and Pediatric Intensive Care Unit, University Hospital "Renato Dulbecco", 88100 Catanzaro, Italy.
Francesca GranataDepartment of Biomedical Sciences and Morphological and Functional Imaging, University of Messina, Policlinico "G. Martino", 98100 Messina, Italy.
Henry HouldenDepartment of Neuromuscular Disorders, Institute of Neurology, University College London, London WC1E 6BT, UK.
Roberto ChimenzUnit of Pediatric Nephrology, and Rheumatology with Dialysis, Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi", University of Messina, Policlinic "G. Martino", 98125 Messina, Italy.ORCID 0000-0001-9143-4637

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe 17q12 recurrent deletion syndrome is a genomic disorder encompassing a 1.4 to 1.5 Mb region that includes the HNF1B gene, and it manifests with remarkable phenotypic variability. Renal anomalies, endocrine and metabolic disturbances, and neurodevelopmental or psychiatric disorders are recurrent features, although penetrance and severity differ widely between patients.

methodsWe reviewed the literature on the molecular basis, clinical presentation, diagnostic approaches, and management of 17q12 deletion syndrome, and we illustrate the variability of this condition through two contrasting paediatric cases.

resultsThe cases concern three siblings harbouring the same familial deletion, who nevertheless exhibited striking intrafamilial variability, ranging from renal and neurodevelopmental features to multisystemic involvement. These cases exemplify both extremes of the syndrome and highlight the challenges of clinical prognostication.

conclusionsThe review and cases emphasise the importance of early genetic testing in paediatric renal anomalies, the necessity of multidisciplinary surveillance even in asymptomatic individuals, and the relevance of 17q12 deletion as a model of variable expressivity in genomic medicine.

Indexed as

Chromosome DisordersChromosomes, Human, Pair 17Hepatocyte Nuclear Factor 1-betaChildChild, PreschoolChromosome DeletionFemaleHumansMalePhenotypeSmith-Magenis SyndromeHepatocyte Nuclear Factor 1-betaHNF1B protein, human17q12 recurrent deletionchromosomal microarraycongenital anomalies of the kidney and urinary tract (CAKUT)HNF1Bintrafamilial variabilityMODY5neurodevelopmental disorderspaediatric nephrology

Identifiers

PMID41465172
PMCPMC12733229

What Socratic holds

Textmetadata
LicenceCC BY
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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.