Functional assessment and phenotypic heterogeneity of<i>SFTPA1</i>and<i>SFTPA2</i>mutations in interstitial lung diseases and lung cancer

Abstract

This study, which expands the molecular and clinical spectrum of SP-A disorders, shows that pathogenic <i>SFTPA1</i> or <i>SFTPA2</i> mutations share similar consequences for SP-A secretion in cell models and in lung tissue immunostaining, whereas they are associated with a highly variable phenotypic expression of disease, ranging from severe forms requiring lung transplantation to incomplete penetrance.