利用快速外显子组测序鉴定一名新生儿肺泡发育不良中含 TBX4 的缺失。
Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing.
机构信息
Department of Pediatrics, University of Washington, Seattle, Washington.
Department of Pathology, Seattle Children's Hospital and University of Washington, Seattle, Washington.
出版信息
Am J Med Genet A. 2019 May;179(5):842-845. doi: 10.1002/ajmg.a.61096. Epub 2019 Mar 3.
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.
摘要
我们描述了一例因快速外显子组测序（rES）发现的肺泡发育不良导致严重呼吸衰竭的新生儿，该婴儿携带 TBX4 基因缺失。rES 可影响重症监护病房的患者管理，对于未分化呼吸衰竭的新生儿，应与肺活检一起考虑 rES。
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