Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/63739
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Type: Journal article
Title: Lung disease associated with periventricular nodular heterotopia and an FLNA mutation
Author: Masurel-Paulet, A.
Haan, E.
Thompson, E.
Goizet, C.
Thauvin-Robinet, C.
Tai, A.
Kennedy, J.
Smith, G.
Khong, T.
Sole, G.
Guerineau, E.
Coupry, I.
Huet, F.
Robertson, S.
Faivre, L.
Citation: European Journal of Medical Genetics, 2011; 54(1):25-28
Publisher: Editions Scientifiques Medicales Elsevier
Issue Date: 2011
ISSN: 1769-7212
1878-0849
Statement of
Responsibility: 
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
Abstract: 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.
Keywords: Periventricular nodular heterotopia; FLNA gene; Lung manifestations
Rights: Copyright © 2010 Elsevier Masson SAS. All rights reserved.
RMID: 0020105594
DOI: 10.1016/j.ejmg.2010.09.010
Appears in Collections:Paediatrics publications

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