ArticleEuropean journal of human genetics : EJHG2013
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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Who cites it
46 citing papers in PubMed, 111 citations in OpenAlex.
- Lip piercing-related prosthetic aortic graft infection and mediastinitis in filaminopathy: A case report.Journal of vascular surgery cases and innovative techniques · 2026Article
- Extended Root and Arch Replacement for Filamin A-Related Aortopathy With Severe Aortic Regurgitation.JACC. Case reports · 2026Article
- Filamin A in focus: unravelling the multifaceted roles of filamin A in neurodevelopment and neurological disorders.Brain : a journal of neurology · 2025Review
- Mechanisms of aortic dissection: From pathological changes to experimental andProgress in materials science · 2025Article
- Case Report: genotype-phenotype correlations inFrontiers in genetics · 2025Article
- Article
- Polyvalvular Dysplasia and Vascular Abnormalities in a Neonate With anJACC. Case reports · 2024Article
- Sustained generation of neurons destined for neocortex with oxidative metabolic upregulation upon filamin abrogation.iScience · 2024Article
- Hereditary Thoracic Aortic Diseases.Diagnostics (Basel, Switzerland) · 2024Review
- The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia.Journal of neurology · 2023Article
- The clinical and imaging features of FLNA positive and negative periventricular nodular heterotopia.Biomedical journal · 2022Article
- Phenotypic manifestations inBMJ case reports · 2022Review
- Filamin C regulates skeletal muscle atrophy by stabilizing dishevelled-2 to inhibit autophagy and mitophagy.Molecular therapy. Nucleic acids · 2022Article
- Comprehensive Analysis of Key m6A Modification Related Genes and Immune Infiltrates in Human Aortic Dissection.Frontiers in cardiovascular medicine · 2022Article
- Article
- Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome.Orphanet journal of rare diseases · 2021Article
- The variants at FLNA and FLNB contribute to the susceptibility of hypertension and stroke with differentially expressed mRNA.The pharmacogenomics journal · 2021Article
- Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies.American journal of medical genetics. Part A · 2021Article
- Review
- Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia.Human genome variation · 2020Article
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Authors and funding
26 authors at 13 institutions in 6 countries.
Funding
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.
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