Table 4

Genotype/phenotype correlation in patients with surfactant protein C gene (SFTPC) mutations

Index patientNogee et al. 13Thomas et al. 14
GenotypeDe novo heterozygous g.1286T>C (I73T) SFTPC mutationFamilial heterozygous g.1727G>A (deletion of exon 4) SFTPC mutationsFamilial heterozygous g.2188T>A (L188Q) SFTPC mutations
PhenotypeFull-term infant with combined histological patterns of NSIP and PAPFull-term infant with NSIP pattern and mother with UIP patternKindred with NSIP pattern in infants and UIP pattern in adults
Intra-alveolar accumulation of aberrantly processed proSP-CAberrant intracellular localisation of precursors of SP-CAberrant intracellular localisation of precursors of SP-C
Mono- and dimeric SP‐C forms in BAL fluidsLack of SP‐C in BAL fluids
Trafficking of mutant SP‐C in A549 cellsIntracellular routing to early endosomesFormation of intracellular aggregates 24Formation of intracellular aggregates#
  • SP‐C: surfactant protein C

  • NSIP: nonspecific interstitial pneumonia

  • PAP: pulmonary alveolar proteinosis

  • BAL: bronchoalveolar lavage

  • UIP: usual interstitial pneumonia

  • #: unpublished observation (M.F. Beers)