期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 54, 期 1, 页码 25-28出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2010.09.010
关键词
Periventricular nodular heterotopia; FLNA gene; Lung manifestations
资金
- GIS [04/59, 05/46]
- Programme Hospitalier de Recherche Clinique [04/07]
- Institut des Maladies Rares, INSERM
- Ministere de l'Enseignement Superieur et de la Recherche
- Ministere de la Sante
- Child Health Research Foundation of New Zealand
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. (C) 2010 Elsevier Masson SAS. All rights reserved.
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