Lung disease associated with periventricular nodular heterotopia and an FLNA mutation

Alice Masurel-Paulet, Eric Haan, Elizabeth Thompson, Cyril Goizet, Christel Thauvin-Robinet, Andrew Tai, John Kennedy, Gregory Smith, Teck Yee Khong, Guilhem Sole, Elodie Guerineau, Isabelle Coupry, Frederick Huet, Stephen Robertson, Laurence Faivre

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    50 Citations (Scopus)


    X-linked periventricular nodular heterotopia (PH) is a neuronal migration disorder caused by mutations in the gene encoding filamin A (FLNA). High phenotypic diversity, ranging from PH to otopalatodigital syndrome and frontometaphyseal dysplasia has been described in association with FLNA mutations. Extra-neurological features including cardiovascular abnormalities, coagulopathy, skeletal dysplasia and joint hypermobility have sometimes been described in patients with PH. Respiratory manifestations have not been associated with FLNA disorders with the exception of tracheal stenosis and pulmonary hypoplasia associated with frontometaphyseal dysplasia and Melnick-Needles syndrome. Here, we report on a male patient aged 6 years presenting with a mosaic nonsense mutation c.994delG within the FLNA gene, PH and severe congenital lung disease comprising bilateral atelectasis, lung cysts, tracheobronchomalacia, pulmonary arterial hypertension and long-term oxygen dependence; histology of resected lung showed panpulmonary emphysema with marked reduction of bronchial cartilage. Rare male patients with PH and FLNA mutations have already been reported, usually with early lethality. These observations suggest the possibility of a link between FLNA mutations and congenital lung disease. A prospective study of patients with PH and FLNA mutations would be helpful in order to test this hypothesis.

    Original languageEnglish
    Pages (from-to)25-28
    Number of pages4
    JournalEuropean Journal of Medical Genetics
    Issue number1
    Publication statusPublished - 2011


    • FLNA gene
    • Lung manifestations
    • Periventricular nodular heterotopia


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