ArticleJournal of medical case reports2016
Lung disease associated with filamin A gene mutation: a case report.
Article in Journal of medical case reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 30 citations in OpenAlex.
- Pediatric Diffuse Lung Disease in Infants: Imaging Findings and Histopathologic Correlation.Radiographics : a review publication of the Radiological Society of North America, Inc · 2024Review
- From stress fiber to focal adhesion: a role of actin crosslinkers in force transmission.Frontiers in cell and developmental biology · 2024Review
- Deficiency of filamin A in smooth muscle cells protects against hypoxia‑mediated pulmonary hypertension in mice.International journal of molecular medicine · 2023Article
- The clinical and imaging features of FLNA positive and negative periventricular nodular heterotopia.Biomedical journal · 2022Article
- Platelet function and filamin A expression in two families with novel FLNA gene mutations associated with periventricular nodular heterotopia and panlobular emphysema.American journal of medical genetics. Part A · 2022Article
- Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome.Orphanet journal of rare diseases · 2021Article
- Heterogeneous Pulmonary Phenotypes in Filamin A Mutation-Related Lung Disease.Pediatric allergy, immunology, and pulmonology · 2021Article
- Where the congenital heart disease meets the pulmonary arterial hypertension, FLNA matters: a case report and literature review.BMC pediatrics · 2020Review
- Clues beyond the lung: an unusual diagnosis in an infant with chronic lung disease.Breathe (Sheffield, England) · 2020Article
- Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review.BMC pediatrics · 2019Review
- A review of filamin A mutations and associated interstitial lung disease.European journal of pediatrics · 2019Review
- Respiratory distress in a 2-month-old infant: Is the primary cause cardiac, pulmonary or both?Respiratory medicine case reports · 2018Article
- Lung Transplantation for FLNA-Associated Progressive Lung Disease.The Journal of pediatrics · 2017Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMutations 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.
conclusionsOur data support previous reports in the literature that associate FLNA gene mutation and lung disease.
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Registered trials
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