Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/75886
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Type: Journal article
Title: Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A
Author: Reinstein, E.
Frentz, S.
Morgan, T.
Garcia-Minaur, S.
Leventer, R.
McGillivray, G.
Pariani, M.
van der Steen, A.
Pope, M.
Holder-Espinasse, M.
Scott, R.
Thompson, E.
Robertson, T.
Coppin, B.
Siegel, R.
Zurita, M.
Rodriguez, J.
Morales, C.
Rodrigues, Y.
Arcas, J.
et al.
Citation: European Journal of Human Genetics, 2013; 21(5):494-502
Publisher: Nature Publishing Group
Issue Date: 2013
ISSN: 1018-4813
1476-5438
Statement of
Responsibility: 
Eyal Reinstein... Elizabeth M Thompson... et al.
Abstract: Mutations conferring loss of function at the FLNA (encoding filamin A) locus lead to X-linked periventricular nodular heterotopia (XL-PH), with seizures constituting the most common clinical manifestation of this disorder in female heterozygotes. Vascular dilatation (mainly the aorta), joint hypermobility and variable skin findings are also associated anomalies, with some reports suggesting that this might represents a separate syndrome allelic to XL-PH, termed as Ehlers-Danlos syndrome-periventricular heterotopia variant (EDS-PH). Here, we report a cohort of 11 males and females with both hypomorphic and null mutations in FLNA that manifest a wide spectrum of connective tissue and vascular anomalies. The spectrum of cutaneous defects was broader than previously described and is inconsistent with a specific type of EDS. We also extend the range of vascular anomalies associated with XL-PH to included peripheral arterial dilatation and atresia. Based on these observations, we suggest that there is little molecular or clinical justification for considering EDS-PH as a separate entity from XL-PH, but instead propose that there is a spectrum of vascular and connective tissues anomalies associated with this condition for which all individuals with loss-of-function mutations in FLNA should be evaluated. In addition, since some patients with XL-PH can present primarily with a joint hypermobility syndrome, we propose that screening for cardiovascular manifestations should be offered to those patients when there are associated seizures or an X-linked pattern of inheritance.
Keywords: filamin A; periventricular heterotopia; Ehlers-Danlos syndrome; screening
Rights: © 2012 Macmillan Publishers Limited
RMID: 0020123668
DOI: 10.1038/ejhg.2012.209
Appears in Collections:Paediatrics publications

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