Evidence map›Paper›PMID 40469904›Full record

ArticleGenetics in medicine open2025

Autosomal dominant

Bobby G Ng, Erik A Eklund, Jill A Rosenfeld, Abdallah F Elias, Aya Abu-El-Haija, Celine Bris, Magalie Barth, Jong-Hee Chae, Murim Choi, Holly A Dubbs and 38 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics in medicine open, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

48 authors.

Bobby G NgHuman Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA.
Erik A EklundPediatrics, Clinical Sciences Lund, Lund University, Lund, Sweden.
Jill A RosenfeldBaylor Genetics Laboratories, Houston, TX.
Abdallah F EliasDepartment of Medical Genetics, Shodair Children's Hospital, Helena, MT.
Aya Abu-El-HaijaDivision of Genetics and Genomics, Harvard Medical School, Boston, MA.
Celine BrisDepartment of Biochemistry and Genetics, MitoVasc Institute, UMR CNRS 6015-INSERM U1083, Angers, France.
Magalie BarthDepartment of Biochemistry and Genetics, Angers University Hospital Center, Angers, France.
Jong-Hee ChaeDepartment of Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea.
Murim ChoiDepartment of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.
Holly A DubbsDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA.
Carl FratterOxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.
Nicola FouldsWessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.
Candace GambleCook Children's Clinical Genetics, Fort Worth, TX.
Ralitza H GavrilovaDepartment of Neurology, Mayo Clinic, Rochester, MN.
Jaclyn HavenDepartment of Medical Genetics, Shodair Children's Hospital, Helena, MT.
Trevor L HoffmanSouthern California Kaiser Permanente Medical Group, Department of Regional Genetics, Anaheim, CA.
Jill V HunterDepartment of Pediatric Radiology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX.
Austin LarsonDepartment of Pediatrics, Section of Genetics, University of Colorado School of Medicine, Aurora, CO.
Timothy Edward LotzeDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Pilar MagoulasDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Emily C MagnessDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Debra M BootinThe Woman's Hospital of Texas, Houston, TX.
Eric D MarshDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA.
Victoria NesbittNHS Highly Specialized Services for Rare Mitochondrial Disorders-Oxford Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.
Matthew T PastoreDivision of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
Joanna PoultonNuffield Department of Women's and Reproductive Health, The Women's Centre, University of Oxford, Oxford, United Kingdom.
Shamima RahmanMitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
Fernando ScagliaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Chaya MuraliDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Jennifer PoseyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Joshua RotenbergHouston Specialty Clinic, Houston, TX.
Betsy SchmalzDivision of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
Deepali N ShindeAmbry Genetics, Aliso Viejo, CA.
Zöe PowisQuest Diagnostics, Marlborough, MA.
Rivka Sukenik-HalevyGenetic Institute, Meir Medical Center, Kfar Saba, Israel.
Kristen V TruxalDivision of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
Tami UsterDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada.
Matheus Vernet Machado Bressan WilkeCenter for Individualized Medicine, Mayo Clinic, Rochester, MN.
Erik KleeCenter for Individualized Medicine, Mayo Clinic, Rochester, MN.
Hyewon WooDepartment of Pediatrics, Chungbuk National University Hospital, Cheongju, Republic of Korea.
Donald YounkinDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA.
Jianhua ZhaoCancer Metabolism and Microenvironment Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA.
Jorge GranadilloGenetics and Genomic Medicine, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO.
Seema LalaniDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
David ChitayatDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada.
Wendy K ChungDepartment of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA.
Hudson H FreezeHuman Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA.
Volkan OkurMolecular Diagnostics, New York Genome Center, New York, NY.

Funding

Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI SCOTT Loren POMEROY, MUSTAFA SAHIN · 2021 to 2026
$9.4M
New Congenital Disorders of Glycosylation: Therapy and ModelsR01DK099551 · NIDDK · SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE · PI Hudson H. Freeze · 2014 to 2026
$6.7M
NICHD NIH HHS P50 HD105351NIDDK NIH HHS R01 DK099551
6 · The paper itself

Abstract

Purpose: Hexokinase 1 ( Methods: We present molecular and clinical data on 22 additional individuals with heterozygous, mostly de novo, variants in Results: The clinical manifestations of neurodevelopmental disorder with visual defects and brain anomalies include varying degrees of intellectual disability/developmental delay, hypotonia, epileptic encephalopathy, visual deficits, a Leigh syndrome spectrum pattern on brain magnetic resonance imaging, and elevated lactate in blood and cerebrospinal fluid, suggesting mitochondrial dysfunction. Based on severity, individuals can be classified into mild, moderate, severe, or lethal forms. In terms of genotype-phenotype correlation, we find that all individuals carrying a missense variant at the threonine 457 residue have severe clinical features. Conclusion:

Indexed as

HexokinaseHK1Leigh syndrome spectrumMitochondrial disorderNEDVIBA

Identifiers

PMID40469904
PMCPMC12135434

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

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.