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Updated: Jun 23, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
New surfactant protein C gene mutations associated with diffuse lung disease
L Guillot1, R Epaud, G Thouvenin
1INSERM UMR_S U938, Paris, France.
Journal of Medical Genetics
|May 16, 2009
Summary
Surfactant protein C gene (SFTPC) mutations are a frequent cause of diffuse lung disease in children. The I73T mutation is the most common SFTPC mutation linked to this condition.
Area of Science:
- Genetics
- Pulmonology
- Pediatric Medicine
Background:
- Mutations in the surfactant protein C gene (SFTPC) are linked to diffuse lung diseases.
- These include sporadic and familial interstitial lung disease (ILD).
Purpose of the Study:
- Investigate the prevalence and spectrum of SFTPC mutations.
- Focus on infants and children with diffuse lung disease and suspected surfactant dysfunction.
Main Methods:
- Screened 121 children for the common SFTPC p.Ile73Thr (I73T) mutation.
- Screened 111 patients without I73T for the entire SFTPC coding sequence.
Main Results:
- Ten unrelated patients carried the I73T mutation (6 inherited, 4 de novo).
- Eight subjects (seven unrelated) carried novel SFTPC mutations.
- Most new mutations were in the BRICHOS domain; one (V39A) was in the mature SP-C peptide.
Conclusions:
- SFTPC mutations are a frequent cause of diffuse pediatric lung disease.
- The I73T mutation is the most common SFTPC mutation associated with diffuse lung disease.
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