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Open Access 01-12-2016 | Case report

Lung disease associated with filamin A gene mutation: a case report

Authors: Safa Eltahir, Khalid S. Ahmad, Mohammed M. Al-Balawi, Hussien Bukhamsien, Khalid Al-Mobaireek, Wadha Alotaibi, Abdullah Al-Shamrani

Published in: Journal of Medical Case Reports | Issue 1/2016

Abstract

Background

Mutations in the gene encoding filamin A (FLNA) lead to diseases with high phenotypic diversity including periventricular nodular heterotopia, skeletal dysplasia, otopalatodigital spectrum disorders, cardiovascular abnormalities, and coagulopathy. FLNA mutations were recently found to be associated with lung disease. In this study, we report a novel FLNA gene associated with significant lung disease and unique angiogenesis.

Case presentation

Here, we describe a 1-year-old Saudi female child with respiratory distress at birth. The child then had recurrent lower respiratory tract infections, bilateral lung emphysema with basal atelectasis, bronchospasm, pulmonary artery hypertension, and oxygen and mechanical ventilation dependency. Molecular testing showed a new pathogenic variant of one copy of c.3153dupC in exon 21 in the FLNA gene.

Conclusions

Our data support previous reports in the literature that associate FLNA gene mutation and lung disease.

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Title: Lung disease associated with filamin A gene mutation: a case report
Authors: Safa Eltahir
Khalid S. Ahmad
Mohammed M. Al-Balawi
Hussien Bukhamsien
Khalid Al-Mobaireek
Wadha Alotaibi
Abdullah Al-Shamrani
Publication date: 01-12-2016
Publisher: BioMed Central
Published in: Journal of Medical Case Reports / Issue 1/2016
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/s13256-016-0871-1

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Lung disease associated with filamin A gene mutation: a case report

Abstract

Background

Case presentation

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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