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Eur J Med Genet. 2011 May-Jun;54(3):299-300. doi: 10.1016/j.ejmg.2010.12.009. Epub 2010 Dec 29.

Lung disease in FLNA mutation: confirmatory report.

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  • 1Department of Pediatric Neurology, Erasmus MC-Sophia Children's Hospital, PO Box 2060, 3000 CB Rotterdam, The Netherlands.


Recently in this journal, Masurel-Paulet et al. reported the association between pulmonary disease and a mutation in X-linked FLNA in a male patient. We confirm this association in a female patient, showing that this complication is not sex-specific. Our patient has a FLNA missense mutation (c.220G > A) and presented with cerebral periventricular nodular heterotopia, cardiovascular abnormalities, and pulmonary disease consisting of lobar emphysema of the right middle pulmonary lobe with severe malacia of the right sided bronchus intermedius. Surgical resection of the right middle lobe was necessary and she had long-term oxygen dependency. Symptoms improved with age.

Copyright © 2011 Elsevier Masson SAS. All rights reserved.

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