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New surfactant protein C gene mutations associated with diffuse lung disease
  1. Loïc Guillot
  1. INSERM UMR_S U938, Paris, France
    1. Ralph Epaud
    1. AP-HP, Hôpital Armad Trousseau, Pediatric Pulmonary Department, Paris, France
      1. Guillaume Thouvenin
      1. INSERM UMR_S U938, Paris, France
        1. Laurence Jonard
        1. AP-HP, Hôpital Armand Trousseau, Biochemistry Department, Paris, France
          1. Amira Mohsni
          1. AP-HP, Hôpital Armand Trousseau, Biochemistry Department, Paris, France
            1. Remy Couderc
            1. AP-HP, Hôpital Armand Trousseau, Biochemistry Department, Paris, France
              1. François Counil
              1. Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire de Montpellier, Montpellier, France
                1. Jacques de Blic
                1. Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Pediatric Pneumology-allergology, France
                  1. Rola Abou Taam
                  1. Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Pediatric Pneumology-allergology, France
                    1. Muriel Le Bourgeois
                    1. Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Pediatric Pneumology-allergology, France
                      1. Philippe Reix
                      1. Groupement Hospitalier Est, Pediatric Pneumology-Allergology Department, Lyon, France
                        1. Florence Flamein
                        1. INSERM UMR_S U938, Paris, France
                          1. Annick Clement
                          1. AP-HP, Hôpital Armad Trousseau, Pediatric Pulmonary Department, Paris, France
                            1. Delphine Feldmann (delphine.feldmann{at}trs.aphp.fr)
                            1. AP-HP, Hôpital Armand Trousseau, Biochemistry Department, Paris, France

                              Abstract

                              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). We have investigated the prevalence and the spectrum of SFTPC mutations in a large cohort of infants and children with diffuse lung disease and suspected with surfactant dysfunction. One hundred twenty-one children were first screened for the common SFTPC mutation, p.Ile73Thr (I73T). Ten unrelated patients were shown to carry this mutation. The I73T mutation was inherited in 6 cases, and appeared de novo in 4. The 111 patients without the I73T mutation were screened for the entire coding sequence of SFTPC. Of these, eight (seven unrelated) subjects were shown to carry a novel mutant allele of SFTPC. All these seven new mutations are located in the BRICHOS domain except the p.Val39Ala (V39A) mutation, which is in the surfactant protein C (SP-C) mature peptide. Our results confirm that SFTPC mutations are a frequent cause of diffuse lung disease, and that I73T is the most frequent SFTPC mutation associated with diffuse lung disease.

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