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Article

Deciphering the mechanism of Q145H SFTPC mutation unmasks a splicing defect and explains the severity of the phenotype.

European journal of human genetics : EJHG - 1 Jun 2017

Delestrain Céline, Simon Stéphanie, Aissat Abdel, Medina Rachel, Decrouy Xavier, Nattes Elodie, Tarze Agathe, Costes Bruno, Fanen Pascale, Epaud Ralph

Abstract excerpt

Mutations in the gene encoding surfactant protein C (SFTPC) have led to a broad range of phenotypes from neonatal respiratory distress syndrome to adult interstitial lung disease. We previously identified the c.435G>C variant in the SFTPC gene associated with fatal neonatal respiratory distress syndrome in an infant girl. Although this variation is predicted to change glutamine (Q) at position 145 to histidine...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutation, Missense

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Share to Pulmonary Surfactant-Associated Protein C

Share to Respiratory Distress Syndrome, Newborn

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Source

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Identifiers

PMID: 28295039
DOI: 10.1038/ejhg.2017.36
PMCID: PMC5477364

Genes

SFTPC

Variants

Provenance

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