Lung disease in FLNA mutation: confirmatory report

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


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Cardiovascular Abnormalities / pathology
  • Child, Preschool
  • Contractile Proteins / genetics*
  • Female
  • Filamins
  • Humans
  • Infant
  • Lung Diseases / pathology*
  • Microfilament Proteins / genetics*
  • Mutation, Missense*
  • Periventricular Nodular Heterotopia / pathology


  • Contractile Proteins
  • Filamins
  • Microfilament Proteins