Phenotypic manifestations in FLNA-related periventricular nodular heterotopia: a case report and review of the literature.

ABSTRACT: Periventricular nodular heterotopia (PVNH) is an X-linked disease caused by loss-of-function variants in the filamin A (FLNA) gene. FLNA-PVNH is a heterogeneous disorder, and the phenotype is associated with neurological and non-neurological features including cardiovascular, gastrointestinal, pulmonary, haematological, cutaneous and skeletal manifestations. No clear definition of the FLNA-PVNH phenotype has been established, but the patients are predominantly females with seizures, cardiovascular manifestations, and normal intelligence or mild intellectual disability. Herein, we describe a PVNH patient diagnosed with a novel heterozygous missense variant in FLNA after an atypical presentation of deep vein thrombosis and thrombocytopenia. Clinical evaluation found hypermobili

SUBMITTER: Loft Nagel J 

PROVIDER: S-EPMC9006829 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature