Lung disease associated with periventricular nodular heterotopia and an FLNA mutation

Alice Masurel-Paulet, Eric Haan, Elizabeth M. Thompson, Cyril Goizet, Christel Thauvin-Robinet, Andrew Tai, Declan Kennedy, Greg Smith, Teck Yee Khong, Guilhem Solé, Elodie Guerineau, Isabelle Coupry, Frédéric Huet, Stephen Robertson, Laurence Faivre
European Journal of Medical Genetics. 2011-01-01; 54(1): 25-28
DOI: 10.1016/J.EJMG.2010.09.010

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1. Eur J Med Genet. 2011 Jan-Feb;54(1):25-8. doi: 10.1016/j.ejmg.2010.09.010. Epub
2010 Oct 1.

Lung disease associated with periventricular nodular heterotopia and an FLNA

Masurel-Paulet A(1), Haan E, Thompson EM, Goizet C, Thauvin-Robinet C, Tai A,
Kennedy D, Smith G, Khong TY, Solé G, Guerineau E, Coupry I, Huet F, Robertson S,
Faivre L.

Author information:
(1)Centre de Génétique, Hôpital d’Enfants, 10 bd Maréchal de Lattre de Tassigny,
21034 Dijon Cedex, France.

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.

Copyright © 2010 Elsevier Masson SAS. All rights reserved.

DOI: 10.1016/j.ejmg.2010.09.010
PMID: 20888935 [Indexed for MEDLINE]

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