Evidence map›Paper›PMID 41615236›Full record

ArticleThe Journal of clinical investigation2026

EBF2 variant identified in a patient with atypical partial lipodystrophy causes adipose fibrosis and dysfunction.

Maria C Foss-Freitas, Donatella Gilio, Lynn Pais, Eric D Buras, Romil Kaul Verma, Melanie O'Leary, Heidi L Rehm, Carmen Glaze, Kathryn Russell, Andre Monteiro da Rocha and 5 more

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

Article in The Journal of clinical investigation, 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. DICER-driven regulation of lipid metabolism and macrophage-adipocyte crosstalk in partial lipodystrophy.Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie · 2026
    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

15 authors.

Maria C Foss-FreitasCaswell Diabetes Institute and Metabolism, Endocrinology and Diabetes Division, Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan, USA.
Donatella GilioCaswell Diabetes Institute and Metabolism, Endocrinology and Diabetes Division, Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan, USA.
Lynn PaisDivision of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
Eric D BurasCaswell Diabetes Institute and Metabolism, Endocrinology and Diabetes Division, Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan, USA.
Romil Kaul VermaCaswell Diabetes Institute and Metabolism, Endocrinology and Diabetes Division, Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan, USA.
Melanie O'LearyBroad Institute Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Heidi L RehmBroad Institute Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Carmen GlazeBroad Institute Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Kathryn RussellBroad Institute Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Andre Monteiro da RochaFrankel Cardiovascular Regeneration Core Laboratory, University of Michigan, Ann Arbor, Michigan, USA.
Adam NeidertCaswell Diabetes Institute and Metabolism, Endocrinology and Diabetes Division, Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan, USA.
Patrick SealeInstitute for Diabetes, Obesity and Metabolism, Department of Cell and Developmental Biology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Miriam S UdlerBroad Institute Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Elif A OralCaswell Diabetes Institute and Metabolism, Endocrinology and Diabetes Division, Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan, USA.
Tae-Hwa ChunCaswell Diabetes Institute and Metabolism, Endocrinology and Diabetes Division, Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan, USA.

Funding

Regional Pilot And Feasibility Study Grants ProgramP30DK020572 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI DAVID P OLSON · 2013 to 2026
$24.3M
Defining the molecular basis of thrombospondin-1-induced fibro-fatty diaphragm remodeling--a driver of obesity-associated respiratory dysfunctionR01HL174591 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ERIC D BURAS · 2025 to 2026
$1.0M
NHLBI NIH HHS R01 HL174591NIDDK NIH HHS P30 DK020572
6 · The paper itself

Abstract

Lipodystrophy (LD) syndromes are characterized by loss of adipose tissue (AT), leading to insulin resistance and the development of metabolic syndrome. We identified a heterozygous nonsense variant in early B cell factor 2 (EBF2) (Chr8:26033143C>A, NM_022659.4: c.493G>T, p.E165X) in a patient with atypical partial LD (PLD). The EBF family is crucial for the differentiation and function of various mesenchymal tissues. Through in vitro and in vivo disease models, we discovered that this variant limited adipocyte differentiation and hampered AT remodeling. Heterozygous-knockin (Ebf2E165X/+) mice showed restricted adipogenesis and defective extracellular matrix remodeling during the post-weaning period and high-fat diet-induced (HFD-induced) AT expansion. A HFD caused abnormal adipocyte hypertrophy, decreased the expression of adiponectin and leptin, and led to glucose intolerance in Ebf2E165X/+ mice. Furthermore, key mitochondrial genes involved in fatty acid metabolism and oxidation were downregulated specifically in Ebf2E165X/+ AT. Our results suggest that EBF2 dysfunction caused by this nonsense variant drives disease pathology, establishing a connection between EBF2 disruption and an atypical form of LD.

Indexed as

Adipose TissueBasic Helix-Loop-Helix ProteinsCodon, NonsenseLipodystrophyLipodystrophy, Familial PartialAdipocytesAdipogenesisAnimalsFemaleFibrosisHumansMaleMiceBasic Helix-Loop-Helix ProteinsCodon, NonsenseAdipose tissueGeneticsGenetic variationMetabolismTranscription

Identifiers

PMID41615236
PMCPMC12987656

What OpenQuestion holds

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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 OpenQuestion graph.