PARN mutation

Published: 12 August 2021| Version 1 | DOI: 10.17632/7g23bwzzpz.1
Ping Wang


A 23-year-old student presented with a four-year history of progressive cough and exertional dyspnea. Physical examination was remarkable for typical mucocutaneous abnormalities. Chest computerized tomography scan revealed interstitial fibrosis. A heterozygous missense mutation located in exon 22 of PARN gene was identified in the patient by whole exome sequencing and was verified with Sanger sequencing.