Evidence map›Paper›PMID 40704758›Full record

ReviewMolecular genetics & genomic medicine2025

Three Siblings With an Attenuated Presentation of Perlman Syndrome: A Case Report and Literature Review.

Alayne P Meyer, Daniel C Koboldt, Swetha Ramadesikan, Kristin Zajo, Maria E Hernandez Gonzalez, Anthony R Miller, Douglas Depoorter, Catherine P Comer, James I Geller, Katherine Somers and 2 more

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

Review in Molecular genetics & genomic medicine, 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

12 authors.

Alayne P MeyerDivision of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.ORCID https://orcid.org/0000-0003-3072-0212
Daniel C KoboldtSteve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, Ohio, USA.ORCID https://orcid.org/0000-0003-3204-3067
Swetha RamadesikanSteve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, Ohio, USA.
Kristin ZajoDivision of Hematology, Oncology, and Bone Marrow Transplant, Nationwide Children's Hospital, Columbus, Ohio, USA.
Maria E Hernandez GonzalezSteve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, Ohio, USA.
Anthony R MillerSteve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, Ohio, USA.
Douglas DepoorterSteve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, Ohio, USA.
Catherine P ComerElevate Childhood Cancer Research and Advocacy, Columbus, Ohio, USA.
James I GellerDivision of Oncology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA.ORCID https://orcid.org/0000-0001-5181-116X
Katherine SomersDepartment of Hematology and Oncology, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.ORCID https://orcid.org/0000-0001-8683-9488
Nilay ShahDepartment of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.
Marco L LeungSteve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, Ohio, USA.ORCID https://orcid.org/0000-0003-3312-8468

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionPerlman syndrome is a rare autosomal recessive overgrowth disorder with a predisposition to Wilms tumor, caused by biallelic variants in DIS3L2. The majority of patients die in infancy due to respiratory and/or renal failure, limiting the reports of patients surviving into childhood.

methodsExome sequencing was performed in the proband and her older brother. A younger sibling subsequently underwent targeted variant analysis. RNA sequencing was utilized to investigate the functional impact of the missense variant.

resultsThree siblings presented at birth with fetal macrosomia, dysmorphic facial features, and facial hypotonia. The proband had early speech delay and was diagnosed with Wilms tumor at 3 years old. Her brothers both had developmental delay presenting within the first year of life. Genetic testing identified compound heterozygous variants in DIS3L2 (NM_152383.5): c.127C>T (p.Arg43Ter) (paternal)/c.2381G>A (p.Arg794His) (maternal).

conclusionOur findings expand the genetic and clinical spectrums associated with Perlman syndrome and increase the understanding of the phenotype observed in childhood. They also support consideration of genetic testing for Perlman syndrome in individuals and sibships with macrosomia, developmental delay, and characteristic facial dysmorphisms, with or without the presence of Wilms tumor.

Indexed as

Fetal MacrosomiaWilms TumorChild, PreschoolFemaleHumansInfantInfant, NewbornMaleMutation, MissensePhenotypeSiblings

Identifiers

PMID40704758
PMCPMC12288098

What OpenQuestion holds

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Registered trials

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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.