Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis

Jonathan H Rayment; Rebekah Jobling; Sarah Bowdin; Ernest Cutz; Sharon D Dell

doi:10.1183/23120541.00205-2018

Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis

ERJ Open Res. 2019 Apr 26;5(2):00205-2018. doi: 10.1183/23120541.00205-2018. eCollection 2019 Apr.

Authors

Jonathan H Rayment^{1

2}, Rebekah Jobling^{3

4}, Sarah Bowdin⁵, Ernest Cutz⁶, Sharon D Dell^{3

7

8

9}

Affiliations

¹ Division of Respiratory Medicine, BC Children's Hospital, Vancouver, BC, Canada.
² Dept of Paediatrics, University of British Columbia, Vancouver, BC, Canada.
³ Dept of Paediatrics, University of Toronto, Toronto, ON, Canada.
⁴ Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
⁵ Dept of Clinical Genetics, Addenbrooke's Treatment Centre, Cambridge University Hospitals, Cambridge, UK.
⁶ Division of Pathology, Dept of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
⁷ Division of Respiratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
⁸ Institute of Health Policy, Management and Education, University of Toronto, Toronto, ON, Canada.
⁹ Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.

Abstract

The case of a young boy with pulmonary haemorrhage who was ultimately diagnosed on whole exome sequencing with a rare condition called prolidase deficiency. This case demonstrates the utility of modern genomic testing in paediatric rare lung disease. http://ow.ly/rDGz30o8pcd.