Evidence map›Paper›PMID 41975654›Full record

ArticleAmerican journal of medical genetics. Part A2026

35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations.

Mindy H Li, Deziree L Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova and 16 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of medical genetics. Part A, 2026. 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

26 authors.

Mindy H LiDivision of Genetics, Department of Pediatrics, Rush University Medical Center, Chicago, Illinois, USA.ORCID https://orcid.org/0000-0002-5957-7918
Deziree L ColemanDepartment of Pediatrics, Department of Pharmacology, University of Washington School of Medicine, Seattle, Washington, USA.
Kelsey HoganDivision of Genetics, Department of Pediatrics, Rush University Medical Center, Chicago, Illinois, USA.
Danielle LuzDivision of Genetics, Department of Pediatrics, Rush University Medical Center, Chicago, Illinois, USA.
Lindsay BhandariDivision of Pediatric Neurology, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Newell BelnapNeurogenomics Division, Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.ORCID https://orcid.org/0009-0003-8868-5891
Tiffany BusaDepartment of Medical Genetics, Timone Children's Hospital, AP-HM, Marseille, France.ORCID https://orcid.org/0000-0003-4454-1979
Charles CouttonUniversity Grenoble Alpes, Inserm, U1209, CHU Grenoble Alpes, Institut for Advanced Biosciences, Grenoble, France.
Klaus DieterichUniversity Grenoble Alpes, Inserm, U1209, CHU Grenoble Alpes, Institut for Advanced Biosciences, Grenoble, France.
Svetlana GorokhovaDepartment of Medical Genetics, Timone Children's Hospital, AP-HM, Marseille, France.
Clara HildebrandtDivision of Genetics and Metabolism, Department of Pediatrics, University of North Carolina, Chapel Hill, Chapel Hill, North Carolina, USA.ORCID https://orcid.org/0000-0002-6254-5925
Rachel LoganDivision of Neurosciences, Children's Healthcare of Atlanta, Atlanta, Georgia, USA.
Milena MarianiDepartment of Pediatrics, ASST Lariana Sant'anna Hospital, Como, Italy.
Manuela MorleoTelethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.ORCID https://orcid.org/0000-0002-7553-3245
Vincenzo NigroTelethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.
John PappasDepartment of Pediatrics, Clinical Genetics Services, New York University Grossman School of Medicine, New York, New York, USA.
Rachel RabinDepartment of Pediatrics, Clinical Genetics Services, New York University Grossman School of Medicine, New York, New York, USA.ORCID https://orcid.org/0000-0003-4906-7428
Kelly SchochDivision of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.
Angelo SelicorniDepartment of Pediatrics, ASST Lariana Sant'anna Hospital, Como, Italy.
Vandana ShashiDivision of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.
Rebecca SpillmannDivision of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.
Jennifer SullivanDivision of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.
Charlotte TardyDepartment of Medical Genetics, Timone Children's Hospital, AP-HM, Marseille, France.
Samantha A Schrier VerganoDepartment of Pediatrics, Eastern Virginia Medical School, Children's Hospital of the King's Daughters, Norfolk, Virginia, USA.
Brock GrillDepartment of Pediatrics, Department of Pharmacology, University of Washington School of Medicine, Seattle, Washington, USA.ORCID https://orcid.org/0000-0002-0379-3267
Kristin BarananoDivision of Pediatric Neurology, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.ORCID https://orcid.org/0000-0002-4157-2019

Funding

An integrated and diverse genomic medicine program for undiagnosed diseasesU01HG007672 · NHGRI · DUKE UNIVERSITY · PI SHASHI, VANDANA · 2014 to 2022
$13.4M
Mechanisms of synapse formation and axon termination in C. elegansR01NS072129 · NINDS · UNIVERSITY OF MINNESOTA · PI GRILL, BROCK · 2011 to 2024
$8.0M
Common Fund U01HG007672HUWE1 Bike for BreakthroughsLouie's HUWEMetcalfe Wheeler FamilyNHGRI NIH HHS U01 HG007672NIH HHS R01 NS072129NINDS NIH HHS R01 NS072129
6 · The paper itself

Abstract

HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X-linked intellectual disability, including in the patients identified by Juberg, Marsidi, and Brooks. This report describes 35 additional cases of individuals with variants in HUWE1 and suggested guidelines for clinical management. Our study includes several female cases, which have not been widely reported previously. Our findings confirm earlier reported clinical features including developmental delay, autism, hypotonia, short stature, and dysmorphic facial features as well as additional multisystemic findings. Intrauterine growth restriction (IUGR) and feeding difficulties were common in the neonatal period. It is notable that nearly all females had de novo variants, and males had de novo or inherited variants from clinically unaffected carrier mothers. Three genetic hotspots were identified in evolutionarily conserved regions of HUWE1 that have clinical impact. This report provides additional characterization of the spectrum of HUWE1-related neurodevelopmental disorder (HNDD).

Indexed as

Neurodevelopmental DisordersTumor Suppressor ProteinsUbiquitin-Protein LigasesAdolescentChildChild, PreschoolFemaleHumansInfantMaleMutationPhenotypeHUWE1 protein, humanTumor Suppressor ProteinsUbiquitin-Protein Ligases

Identifiers

PMID41975654
PMCPMC13577160

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.