Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related disease.

Background: LAMP3 encodes a lysosomal membrane protein associated with lamellar bodies and has recently been proposed as a candidate gene for childhood interstitial lung diseases (chILD). Here, we identified two LAMP3 variants in a proband with chILD and performed functional validation of these variants as well as the previously reported variants to demonstrate the role of LAMP3 in pathology.

Methods: LAMP3 variants were identified by exome sequencing.