Open AccessWhole-Exome Sequencing of Adult and Pediatric Cohorts of the Rare Vascular Disorder Systemic Capillary Leak Syndrome
Author(s) -
Richard W. Pierce,
Weizhen Ji,
Eunice C. Chan,
Zhihui Xie,
Lauren Long,
Mustafa K. Khokha,
Saquib A. Lakhani,
Kirk M. Druey
Publication year - 2019
Publication title -
shock
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.095
H-Index - 117
eISSN - 1540-0514
pISSN - 1073-2322
DOI - 10.1097/shk.0000000000001254
Subject(s) - exome sequencing , candidate gene , etiology , genetic testing , biology , medicine , genetics , gene , mutation
Systemic capillary leak syndrome (SCLS) is a rare disorder that presents with episodes of hypovolemic shock. The extent to which genetic abnormalities contribute to SCLS is unknown. We identified pediatric and adult cohorts with characteristic clinical courses. We sought to describe the clinical characteristics of both cohorts, identify a possible genetic contribution to SCLS, and demonstrate that whole-exome sequencing (WES) may be conducted by critical care providers.