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.

, ,,
European Journal of Medical Genetics
Erasmus MC: University Medical Center Rotterdam

de Wit, M. C., Tiddens, H., de Coo, R., & Mancini, G. (2011). Lung disease in FLNA mutation: Confirmatory report. European Journal of Medical Genetics, 54(3), 299–300. doi:10.1016/j.ejmg.2010.12.009