Evidence map›Paper›PMID 42249560›Full record

ArticleClinical genetics2026

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.

Camille Bergès, Clément Sauvestre, Sophie Naudion, Catherine Vincent Delorme, Thomas Smol, Mélanie Rama, Stephanie Moortgat, Isabelle Maystadt, Rogier Kersseboom, Martina Wilke and 21 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

31 authors.

Camille BergèsService de génétique médicale, CHU Bordeaux, MRGM-U1211, INSERM/Université de Bordeaux, Bordeaux, France.ORCID https://orcid.org/0000-0002-7773-3689
Clément SauvestreService de génétique médicale, CHU Bordeaux, MRGM-U1211, INSERM/Université de Bordeaux, Bordeaux, France.ORCID https://orcid.org/0009-0001-5645-5560
Sophie NaudionService de génétique médicale, CHU Bordeaux, MRGM-U1211, INSERM/Université de Bordeaux, Bordeaux, France.
Catherine Vincent DelormeCHU Lille, Institut de Génétique Médicale, Université de Lille, Lille, France.ORCID https://orcid.org/0009-0007-2194-5176
Thomas SmolCHU Lille, Institut de Génétique Médicale, Université de Lille, Lille, France.ORCID https://orcid.org/0000-0002-0119-5896
Mélanie RamaCHU Lille, Institut de Génétique Médicale, Université de Lille, Lille, France.
Stephanie MoortgatCentre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.ORCID https://orcid.org/0000-0002-4783-8674
Isabelle MaystadtCentre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.ORCID https://orcid.org/0000-0001-7170-8186
Rogier KersseboomCenter for Heritable Syndromes, Zuidwester, Middelharnis, the Netherlands.ORCID https://orcid.org/0000-0002-7824-8941
Martina WilkeDepartment of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.ORCID https://orcid.org/0000-0002-8115-8517
Tahsin Stefan BarakatDepartment of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.ORCID https://orcid.org/0000-0003-1231-1562
Yoann VialDepartment of Genetics, Robert DEBRE University Hospital, Sorbonne-Paris-Cité University, INSERM-UMR-1141, Paris, France.ORCID https://orcid.org/0000-0003-1437-0427
Laurence PerrinDepartment of Genetics, Robert DEBRE University Hospital, Sorbonne-Paris-Cité University, INSERM-UMR-1141, Paris, France.
Sandrine PassemardDepartment of Genetics, Robert DEBRE University Hospital, Sorbonne-Paris-Cité University, INSERM-UMR-1141, Paris, France.ORCID https://orcid.org/0000-0002-0242-4566
Farooq AhmadDepartment of Chemistry, Women University Swabi, Swabi, Pakistan.
Muhammad UmairMedical Genomics Research Department, King Saud Bin Abdulaziz University for Health Science, Riyadh, Saudi Arabia.
Tobias HaackInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.ORCID https://orcid.org/0000-0001-6033-4836
Mona GrimmelInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.ORCID https://orcid.org/0009-0007-3120-323X
Alma KuechlerInstitute of Human Genetics, University Hospital Essen, Essen, Germany.
Anne SlavotinekDivision of Medical Genetics, University of California, San Francisco, San Francisco, California, USA.ORCID https://orcid.org/0000-0001-7053-2449
Patrick DevineGenomic Medicine Laboratory, University of California, San Francisco, San Francisco, California, USA.
Ugur HodoglugilGenomic Medicine Laboratory, University of California, San Francisco, San Francisco, California, USA.ORCID https://orcid.org/0009-0002-8834-5566
Faisal ZafarDepartment of Development Pediatrics, The Children's Hospital, Multan, Pakistan.
Erum AfzalDepartment of Development Pediatrics, The Children's Hospital, Multan, Pakistan.
Tracy Dudding-BythUniversity of Newcastle, Callaghan, New South Wales, Australia.ORCID https://orcid.org/0000-0002-9551-1107
Guillaume JouretNational Center of Genetics, LNS, Dudelange, Luxembourg.ORCID https://orcid.org/0000-0002-9657-197X
Lucas HerissantNational Center of Genetics, LNS, Dudelange, Luxembourg.ORCID https://orcid.org/0000-0003-0065-5608
Stephanie EfthymiouDepartment of Neuromuscular Diseases, University College London, London, UK.ORCID https://orcid.org/0000-0003-4900-9877
Henry HouldenDepartment of Neuromuscular Diseases, University College London, London, UK.ORCID https://orcid.org/0000-0002-2866-7777
Marine LegendreService de génétique médicale, CHU Bordeaux, MRGM-U1211, INSERM/Université de Bordeaux, Bordeaux, France.
Vincent MichaudService de génétique médicale, CHU Bordeaux, MRGM-U1211, INSERM/Université de Bordeaux, Bordeaux, France.ORCID https://orcid.org/0000-0002-5788-392X

Funding

Sharing Aggregate Genomics Research Findings with Diverse Participants: A Pilot Study of an Innovative Design StrategyU01HG009599 · NHGRI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KOENIG, BARBARA A., KWOK, PUI-YAN · 2017 to 2021
$16.3M
GIRCI SOHO CHUBX 2021/40NHGRI NIH HHS U01 HG009599NHGRI NIH HHS U01HG009599
6 · The paper itself

Abstract

Pseudouridylation is a frequent post-transcriptional modification resulting in uridine isomerization in 5-ribosyluracil, also called pseudouridine. This mechanism leads to RNA stability with an increase in base-stacking and the creation of hydrogen bonds. Recently, papers reported that variants in PUS7 in 16 patients were involved in marked growth retardation with microcephaly, associated with intellectual disability and behavioral issues such as self-injurious and aggressive behavior. Through Genematcher, we initiated a collaboration to describe a new cohort of PUS7 patients. In total, we report 13 new cases carrying 15 new variants. This cohort further expands the phenotypic spectrum associated with PUS7-related syndromes, allowing for improved genotype-phenotype correlations and ultimately better healthcare for affected individuals and their families.

Indexed as

Growth DisordersIntellectual DisabilityAdolescentChildChild, PreschoolFemaleGenetic Association StudiesHumansInfantMaleMutationPhenotypeaggressivenessgeneticsgrowth retardationneurodevelopmentPUS7sequencing

Identifiers

PMID42249560
PMCPMC13431721

What Socratic 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 Socratic graph.