Evidence map›Paper›PMID 41653023›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2026

Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association.

Laura A Keehan, Hitomi Ono-Minagi, Mohamad Hadhud, Jonathan Rips, Daniel M Hinds, Anthony J Fischer, Jennifer A Bartlett, Paul B McCray, Nada Qawasmi, Nadia Nathan and 15 more

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Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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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

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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

25 authors.

Laura A KeehanDepartment of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA.
Hitomi Ono-MinagiAdeno-Associated Virus Biology Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD; Department of Oral-facial Disorders, Osaka University Graduate School of Dentistry, Suita, Osaka, Japan.
Mohamad HadhudPediatric Pulmonary Unit and Cystic fibrosis Center, Hadassah Medical Center and Faculty of Medicine, Hebrew University of Jerusalem, Israel.
Jonathan RipsDepartment of Genetics, Hadassah Medical Center and Faculty of Medicine, Hebrew University of Jerusalem, Israel.
Daniel M HindsStead Family Department of Pediatrics, University of Iowa, IA.
Anthony J FischerStead Family Department of Pediatrics, University of Iowa, IA.
Jennifer A BartlettStead Family Department of Pediatrics, University of Iowa, IA.
Paul B McCrayStead Family Department of Pediatrics, University of Iowa, IA.
Nada QawasmiPediatric Pulmonary Unit and Cystic fibrosis Center, Hadassah Medical Center and Faculty of Medicine, Hebrew University of Jerusalem, Israel; Department of Pediatrics, Palestine Medical Complex, Ramallah, Palestine and Faculty of Medicine Al Quds University, East Jerusalem, Palestine.
Nadia NathanSorbonne University, Inserm UMR_S933 Laboratory of childhood genetic diseases, Armand Trousseau Hospital, Paris, France; Department of Pediatric Pulmonology and RespiRare centre, Armand Trousseau Hospital, Assistance Publique Hôpitaux de Paris, France.
Camille LouvrierSorbonne University, Inserm UMR_S933 Laboratory of childhood genetic diseases, Armand Trousseau Hospital, Paris, France.
Tifenn DesroziersSorbonne University, Inserm UMR_S933 Laboratory of childhood genetic diseases, Armand Trousseau Hospital, Paris, France.
Markus DammeBiochemisches Institut, Christian-Albrechts-Universitaet; Kiel, Germany.
Matthias GrieseSection of Pediatric Pneumology; Dr. von Hauner Children's Hospital, LMU Munich, German Center for Lung research (DZL), Germany.
Daniel J WegnerEdward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St Louis Children's Hospital, St Louis, MO.
F Sessions ColeEdward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St Louis Children's Hospital, St Louis, MO.
Jennifer A WambachEdward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St Louis Children's Hospital, St Louis, MO.
Matthew T WheelerStanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA.
Peter D BurbeloAdeno-Associated Virus Biology Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD.
Devon E BonnerDepartment of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA.
Undiagnosed Diseases NetworkStanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA.
Jonathan A BernsteinDepartment of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA.
John A ChioriniAdeno-Associated Virus Biology Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD.
Oded BreuerPediatric Pulmonary Unit and Cystic fibrosis Center, Hadassah Medical Center and Faculty of Medicine, Hebrew University of Jerusalem, Israel.
Carlos MillaDepartment of Pediatrics, Division of Pulmonary Medicine, Stanford University School of Medicine, Stanford, CA. Electronic address: cmilla@stanford.edu.

Funding

Functional Characterization of ABCA3 Genomic VariantsR01HL149853 · NHLBI · WASHINGTON UNIVERSITY · PI Jennifer Wambach · 2020 to 2026
$3.9M
Adeno-associated Virus Biology And Utilization For Gene TransferZ01DE000695 · NIDCR · NATIONAL INSTITUTE OF DENTAL & CRANIOFACIAL RESEARCH · PI CHIORINI, JOHN A · 2000 to 2008
$3.4M
Center for Undiagnosed Diseases at StanfordU01NS134358 · NINDS · STANFORD UNIVERSITY · PI Jonathan Adam Bernstein, HOLLY K TABOR · 2023 to 2026
$3.1M
Linking DDR2 expression, the cancer-associated fibroblast, and angiogenesis in the tumor microenvironmentUH3TR000481 · NCATS · WASHINGTON UNIVERSITY · PI GEORGE, STEVEN CARL · 2014 to 2016
$2.8M
An integrated in vitro model of perfused tumor and cardiac tissueUH2TR000481 · NCATS · UNIVERSITY OF CALIFORNIA-IRVINE · PI GEORGE, STEVEN CARL · 2012 to 2013
$1.6M
C BRIGGSAE AND C ELEGANS GENOMIC SEQUENCE COMPARISONF32HG000130 · NHGRI · WASHINGTON UNIVERSITY · PI COUCH, JENNIFER A · 1994 to 1995
–
Intramural NIH HHS Z01 DE000695NCATS NIH HHS R03 TR00481NCATS NIH HHS UH2 TR000481NCATS NIH HHS UH3 TR000481NHGRI NIH HHS F32 HG000130NHLBI NIH HHS R01 HL149853NINDS NIH HHS U01 NS134358
6 · The paper itself

Abstract

purposeGenetic causes of surfactant dysfunction are associated with childhood interstitial lung disease. Lysosome-associated membrane glycoprotein 3 (LAMP3) is highly expressed within lamellar bodies of alveolar epithelial type II cells, and variants in LAMP3 have recently been suggested as a novel cause of childhood interstitial lung disease. This study describes the phenotypes of participants with biallelic variants in LAMP3 and presents functional studies evaluating the role of specific LAMP3 variants.

methodsPhenotypic data were collected through chart review and clinical evaluation. In vitro effects of LAMP3 variants were evaluated through immunohistochemistry, western blot, and flow cytometry.

resultsThirteen participants were identified with biallelic variants in LAMP3. They presented with variable phenotypes ranging from neonatal respiratory distress to asymptomatic in adulthood. All symptomatic participants demonstrated ground glass opacities early in life and lung fibrosis later in life. For 1 participant, BAL analysis showed abnormal surfactant protein composition and lung biopsy revealed irregular lamellar bodies. In vitro studies in lung epithelial cells with induced expression of specific LAMP3 variants demonstrated reduced protein expression and abnormal glycosylation.

conclusionBiallelic LAMP3 variants are associated with an interstitial lung disease phenotype with variable expressivity. Evaluation for LAMP3 variants should be considered in individuals with unexplained interstitial lung disease.

Indexed as

Lung Diseases, InterstitialLysosomal Membrane ProteinsAdolescentAdultAllelesAlveolar Epithelial CellsChildChild, PreschoolFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHumansLungLysosomal-Associated Membrane Protein 3MaleNeoplasm ProteinsLAMP3 protein, humanLysosomal-Associated Membrane Protein 3Lysosomal Membrane ProteinsNeoplasm ProteinsInterstitial lung diseaseLAMP3Surfactant dysfunction

Identifiers

PMID41653023
PMCPMC13078123

What OpenQuestion holds

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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.