Identification of a deletion containing <i>TBX4</i> in a neonate with acinar dysplasia by rapid exome sequencing

Abstract

We describe a neonate with severe respiratory failure due to acinar dysplasia found by rapid exome sequencing (rES), to have a deletion containing the TBX4 gene. rES can affect patient management in the intensive care unit and should be considered in concert with lung biopsy in neonates with undifferentiated respiratory failure.