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

doi:10.1016/j.gim.2026.102531

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Article

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 - 1 Apr 2026

Keehan Laura A, Ono-Minagi Hitomi, Hadhud Mohamad, Rips Jonathan, Hinds Daniel M, Fischer Anthony J, Bartlett Jennifer A, McCray Paul B, Qawasmi Nada, Nathan Nadia, Louvrier Camille, Desroziers Tifenn, Damme Markus, Griese Matthias, Wegner Daniel J, Cole F Sessions, Wambach Jennifer A, Wheeler Matthew T, Burbelo Peter D, Bonner Devon E, Bernstein Jonathan A, Chiorini John A, Breuer Oded, Milla Carlos

Abstract excerpt

PURPOSE: Genetic 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...

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Identifiers

PMID: 41653023
DOI: 10.1016/j.gim.2026.102531
PMCID: PMC13078123

Genes

LAMP3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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