Literature DB >> 30828993

Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing.

Kendell German1, Gail H Deutsch2, Amanda S Freed3, Katrina M Dipple4,5, Shilpi Chabra1, James T Bennett4,6.   

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.
© 2019 Wiley Periodicals, Inc.

Entities:  

Keywords:  TBX; acinar dysplasia; exome sequencing; neonatal respiratory failure

Mesh：

Substances：

Year:  2019        PMID： 30828993      PMCID： PMC7738195          DOI： 10.1002/ajmg.a.61096

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  20 in total

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Journal:  Am J Hum Genet       Date:  2015-07-09       Impact factor: 11.025

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4.  Regulatory integration of Hox factor activity with T-box factors in limb development.

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Journal:  Semin Fetal Neonatal Med       Date:  2017-03-28       Impact factor: 3.926

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Journal:  Dev Dyn       Date:  2003-01       Impact factor: 3.780

9.  Multiple roles and interactions of Tbx4 and Tbx5 in development of the respiratory system.

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Journal:  PLoS Genet       Date:  2012-08-02       Impact factor: 5.917

10.  Meeting the challenges of implementing rapid genomic testing in acute pediatric care.

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Journal:  Genet Med       Date:  2018-03-15       Impact factor: 8.822
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  6 in total

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2.  Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant.

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3.  The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children.

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4.  Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4.

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5.  A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report.

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Review 6.  TBX4 variants and pulmonary diseases: getting out of the 'Box'.

Authors:  Meindina G Haarman; Wilhelmina S Kerstjens-Frederikse; Rolf M F Berger
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  6 in total

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