Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer.
Marie LegendreAfifaa ButtRaphael BorieMarie-Pierre DebrayDiane BouvryEmilie Filhol-BlinTifenn DesroziersValérie NauBruno CopinFlorence Dastot-Le MoalMélanie HéryPhilippe DuquesnoyNathalie AllouAnne BergeronJulien BermudezAurélie CazesAnne-Laure CheneVincent CottinBruno CrestaniJean-Charles DalphinChristine DombretBérénice DorayClairelyne DupinViolaine GiraudAnne GondouinLaurent GouyaDominique Israël-BietCaroline KannengiesserAurélie Le BorgneSylvie LeroyElisabeth LongchamptGwenaël LorillonHilario NunesClément PicardMartine Reynaud-GaubertJulie TracletPaul de VuystAurore Coulomb-L'HermineAnnick ClementSerge AmselemNadia NathanPublished in: The European respiratory journal (2020)
This study, which expands the molecular and clinical spectrum of SP-A disorders, shows that pathogenic SFTPA1 or SFTPA2 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.