Joy D Cogan, Jonathan A Kropski, Min Zhao, Daphne B Mitchell, Lynette Rives, Cheryl Markin, Errine T Garnett, Keri H Montgomery, Wendi R Mason, David F McKean, Julia Powers, Elissa Murphy, Lana M Olson, Leena Choi, Dong-Sheng Cheng, Elizabeth Marchani Blue, Lisa R Young, Lisa H Lancaster, Mark P Steele, Kevin K Brown, Marvin I Schwarz, Tasha E Fingerlin, David A Schwartz, William E Lawson, James E Loyd, Zhongming Zhao, John A Phillips, Timothy S Blackwell
RATIONALE: Up to 20% of cases of idiopathic interstitial pneumonia cluster in families, comprising the syndrome of familial interstitial pneumonia (FIP); however, the genetic basis of FIP remains uncertain in most families. OBJECTIVES: To determine if new disease-causing rare genetic variants could be identified using whole-exome sequencing of affected members from FIP families, providing additional insights into disease pathogenesis. METHODS: Affected subjects from 25 kindreds were selected from an ongoing FIP registry for whole-exome sequencing from genomic DNA...
March 15, 2015: American Journal of Respiratory and Critical Care Medicine