ArticlePLoS genetics2020
Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs.
Article in PLoS genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 14 citations in OpenAlex.
- Diffuse alveolar damage, acute respiratory distress syndrome (ARDS), and non-cardiogenic pulmonary edema. Part 1: ARDS endotypes, including systemic inflammatory response syndrome and sepsis, with dog and cat examples.Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc · 2026Review
- Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Protein profiling in intensive care unit-treated COVID-19 patients identifies biomarkers of residual lung abnormalities.ERJ open research · 2025Article
- Alveolar epithelial paxillin in postnatal lung alveolar development.Biology open · 2025Article
- Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related disease.EBioMedicine · 2025Article
- Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human.Genome medicine · 2023Article
- Article
- Upregulation of ATF4-LAMP3 Axis by ORF45 Facilitates Lytic Replication of Kaposi's Sarcoma-Associated Herpesvirus.Journal of virology · 2022Article
- LAMP3 deficiency affects surfactant homeostasis in mice.PLoS genetics · 2021Article
- A novel genomic region on chromosome 11 associated with fearfulness in dogs.Translational psychiatry · 2020Article
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neonatal interstitial lung diseases due to abnormal surfactant biogenesis are rare in humans and have never been reported as a spontaneous disorder in animals. We describe here a novel lung disorder in Airedale Terrier (AT) dogs with clinical symptoms and pathology similar to the most severe neonatal forms of human surfactant deficiency. Lethal hypoxic respiratory distress and failure occurred within the first days or weeks of life in the affected puppies. Transmission electron microscopy of the affected lungs revealed maturation arrest in the formation of lamellar bodies (LBs) in the alveolar epithelial type II (AECII) cells. The secretory organelles were small and contained fewer lamellae, often in combination with small vesicles surrounded by an occasionally disrupted common limiting membrane. A combined approach of genome-wide association study and whole exome sequencing identified a recessive variant, c.1159G>A, p.(E387K), in LAMP3, a limiting membrane protein of the cytoplasmic surfactant organelles in AECII cells. The substitution resides in the LAMP domain adjacent to a conserved disulfide bond. In summary, this study describes a novel interstitial lung disease in dogs, identifies a new candidate gene for human surfactant dysfunction and brings important insights into the essential role of LAMP3 in the process of the LB formation.
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