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Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing
Author(s) -
German Kendell,
Deutsch Gail H.,
Freed Amanda S.,
Dipple Katrina M.,
Chabra Shilpi,
Bennett James T.
Publication year - 2019
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61096
Subject(s) - exome sequencing , respiratory failure , exome , bronchopulmonary dysplasia , biopsy , biology , pathology , medicine , gene , genetics , phenotype , pregnancy , gestational age
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.