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Lung disease in FLNA mutation: confirmatory report.
M C Y de Wit1, H A W M Tiddens, I F M de Coo
1Department of Pediatric Neurology, Erasmus MC-Sophia Children's Hospital, PO Box 2060, 3000 CB Rotterdam, The Netherlands. m.c.y.dewit@erasmusmc.nl
European Journal of Medical Genetics
|January 4, 2011
Summary
Filamin A (FLNA) mutations cause pulmonary disease in females, not just males. This study confirms FLNA-associated lung complications are not sex-specific, impacting female patients.
Area of Science:
- Genetics and Molecular Biology
- Pulmonary Medicine
- Neurology
Background:
- X-linked filamin A (FLNA) mutations have been linked to various congenital abnormalities.
- Previous research identified an association between FLNA mutations and pulmonary disease in a male patient.
Observation:
- This report details a female patient with a FLNA missense mutation (c.220G>A).
- The patient exhibited cerebral periventricular nodular heterotopia, cardiovascular abnormalities, and significant pulmonary disease.
- Pulmonary manifestations included right middle lobe emphysema and bronchial malacia, necessitating surgical intervention.
Findings:
- The findings confirm that pulmonary complications associated with FLNA mutations occur in females.
- This demonstrates that FLNA-related lung disease is not exclusive to males, highlighting its non-sex-specific nature.
- The patient experienced long-term oxygen dependency post-surgery, with symptom improvement over time.
Implications:
- This study expands the understanding of FLNA mutation phenotypes, emphasizing its impact on female respiratory health.
- It underscores the importance of considering FLNA mutations in the differential diagnosis of complex congenital lung diseases in females.
- Further research into FLNA's role in pulmonary development and disease pathogenesis is warranted.
