First heterozygous NOP10 mutation in Familial Pulmonary Fibrosis.

Germline telomere -related gene mutations are associated to familial pulmonary fibrosis (PF) and lead to short telomere syndrome [1, 2]. Most of the short telomere syndrome related genes such as TERT, TERC, DKC1, TINF2 , NHP2 and NOP10 were identified in Dyskeratosis Congenita patients with early onset mucocutaneous manifestations and/or bone marrow failure [3]. The telomerase complex includes TERT, the TERC RNA and DKC1. NOP10 along with DKC1, NHP2 and GAR1 are essential for TERC stability and telomere maintenance [4]. Homozygous NOP10 mutation (c.100Cu003eT, p.Arg34Trp) has been reported only once in a consanguineous family with autosomic recessive-Dyskeratosis Congenita without pulmonary fibrosis [5]. Footnotes This manuscript has recently been accepted for publication in the European Respiratory Journal . It is published here in its accepted form prior to copyediting and typesetting by our production team. After these production processes are complete and the authors have approved the resulting proofs, the article will move to the latest issue of the ERJ online. Please open or download the PDF to view this article. Conflict of interest: Dr. KANNENGIESSER has nothing to disclose. Conflict of interest: Dr. Manali reports personal fees and non-financial support from Boehringer Ingelheim, personal fees and non-financial support from ROCHE, during the conduct of the study. Conflict of interest: Dr. Revy has nothing to disclose. Conflict of interest: Dr. Callebaut has nothing to disclose. Conflict of interest: Dr. Ba has nothing to disclose. Conflict of interest: Dr. Borgel has nothing to disclose. Conflict of interest: Dr. OUDIN has nothing to disclose. Conflict of interest: Dr. Haritou has nothing to disclose. Conflict of interest: Dr. Kolilekas has nothing to disclose. Conflict of interest: Dr. Malagari has nothing to disclose. Conflict of interest: Dr. Borie reports grants and personal fees from Boerhniger Ingelheim, grants and personal fees from Roche, personal fees from Savapharma, outside the submitted work. Conflict of interest: Dr. Lainey has nothing to disclose. Conflict of interest: Dr. Boileau has nothing to disclose. Conflict of interest: Dr. CRESTANI reports personal fees from Astra Zeneca, grants, personal fees and non-financial support from Boehringer Ingelheim, personal fees and non-financial support from BMS, personal fees from Sanofi, grants, personal fees and non-financial support from Roche, outside the submitted work. Conflict of interest: Dr. Papiris reports personal fees and non-financial support from Boehringer Ingelheim, personal fees and non-financial support from ROCHE, during the conduct of the study.