New surfactant protein C gene mutations associated with diffuse lung disease

• Published in: Journal of medical genetics Vol. 46; no. 7; pp. 490 - 494
• Main Authors: Guillot, L, Epaud, R, Thouvenin, G, Jonard, L, Mohsni, A, Couderc, R, Counil, F, de Blic, J, Taam, R A, Le Bourgeois, M, Reix, P, Flamein, F, Clement, A, Feldmann, D
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.07.2009; BMJ Publishing Group; BMJ Publishing Group LTD
• Subjects: Amino acids; Biological and medical sciences; Child; Child, Preschool; Cohort Studies; DNA Mutational Analysis; Families & family life; Female; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genetics of eukaryotes. Biological and molecular evolution; Humans; Infant; Lung diseases; Lung Diseases - genetics; Male; Medical genetics; Medical sciences; Molecular and cellular biology; Mutation; Pedigree; Proteins; Pulmonary Surfactant-Associated Protein C - genetics; Surfactants; Reunion Island; Diffuse; Human; Lung disease; Association; Gene; Pulmonary surfactant; Respiratory disease; Genetics; Protein C; Mutation; Surfactant; Molecular genetics; Diffuse parenchymal lung disease

Background:Mutations in the surfactant protein C gene (SFTPC) have been recently associated with the development of diffuse lung disease, particularly sporadic and familial interstitial lung disease (ILD).Objective:We have investigated the prevalence and the spectrum of SFTPC mutations in a large co...