Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations

European Journal of Human Genetics : EJHG
Donatella PecaOlivier Danhaive

Abstract

Genetic defects of surfactant metabolism are associated with a broad range of clinical manifestations, from neonatal respiratory distress syndrome to adult interstitial lung disease. Early therapies may improve symptoms but diagnosis is often delayed owing to phenotype and genotype variability. Our objective was to characterize the cellular/ultrastructural correlates of surfactant protein C (SP-C) mutations in children with idiopathic diffuse lung diseases. We sequenced SFTPC - the gene encoding SP-C - SFTPB and ABCA3, and analyzed morphology, ultrastructure and SP expression in lung tissue when available. We identified eight subjects who were heterozygous for SP-C mutations. Median age at onset and clinical course were variable. None of the mutations were located in the mature peptide-encoding region, but were either in the pro-protein BRICHOS or linker C-terminal domains. Although lung morphology was similar to other genetic surfactant metabolism disorders, electron microscopy studies showed specific anomalies, suggesting surfactant homeostasis disruption, plus trafficking defects in the four subjects with linker domain mutation and protein misfolding in the single BRICHOS mutation carrier in whom material was available. Immu...Continue Reading

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Citations

Aug 22, 2015·International Journal of Molecular Sciences·Alessandro PaoliniAndrea Masotti
Oct 27, 2015·Chest·Timothy J Vece, Lisa R Young
Jul 1, 2016·Pediatric Pulmonology·Melissa Kaori Silva LitaoLokesh Guglani
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Nov 14, 2019·International Journal of Molecular Sciences·Hiroshi KokubunTomohiko Aoe
Nov 1, 2015·Biochemical Society Transactions·Donatella PecaOlivier Danhaive
Nov 7, 2018·Der Pathologe·F LängerD Jonigk
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Sep 30, 2021·Pediatric Pulmonology·Lauren BradfordJames S Hagood

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