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We describe three female patients from two families with novel heterozygous FLNA variants c.5837_2del and c.508C\u00a0&gt;\u00a0T. Analysis of immunofluorescence of peripheral blood smears and platelet function was performed for all patients. FLNA\u2010negative platelets were observed, suggesting that these variants result in the loss of a functional protein product. All three patients also had periventricular nodular heterotopia and panlobular emphysema. However, they had considerably milder symptoms and later age of onset than in the previously reported cases. Therefore, patients with pathogenic FLNA variants should be studied actively for lung involvement even in the absence of pronounced respiratory symptoms. Conversely, any patient with unexplained panlobular emphysema should be analyzed for pathogenic FLNA variants. We also suggest that immunofluorescence analysis is a useful tool for investigating the pathogenicity of novel FLNA variants.<\/jats:p>","DOI":"10.1002\/ajmg.a.62690","type":"journal-article","created":{"date-parts":[[2022,2,14]],"date-time":"2022-02-14T14:07:41Z","timestamp":1644847661000},"page":"1716-1722","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Platelet function and filamin A expression in two families with novel <i>FLNA<\/i> gene mutations associated with periventricular nodular heterotopia and panlobular emphysema"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4451-2238","authenticated-orcid":false,"given":"Laura M.","family":"Tanner","sequence":"first","affiliation":[{"name":"HUSLAB Department of Clinical Genetics Helsinki University Hospital  Helsinki Finland"},{"name":"Department of Medical and Clinical Genetics University of Helsinki  Helsinki 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