Article
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.
Nature genetics - 1 May 2015
Stuart Bridget D, Choi Jungmin, Zaidi Samir, Xing Chao, Holohan Brody, Chen Rui, Choi Mihwa, Dharwadkar Pooja, Torres Fernando, Girod Carlos E, Weissler Jonathan, Fitzgerald John, Kershaw Corey, Klesney-Tait Julia, Mageto Yolanda, Shay Jerry W, Ji Weizhen, Bilguvar Kaya, Mane Shrikant, Lifton Richard P, Garcia Christine Kim
Abstract excerpt
Idiopathic pulmonary fibrosis (IPF) is an age-related disease featuring progressive lung scarring. To elucidate the molecular basis of IPF, we performed exome sequencing of familial kindreds with pulmonary fibrosis. Gene burden analysis comparing 78 European cases and 2,816 controls implicated PARN, an exoribonuclease with no previous connection to telomere biology or disease, with five new heterozygous damaging...
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