ヒラサワ　キヨウコ   平澤　恭子    所属   その他 その他    職種   非常勤嘱託
論文種別	症例報告
言語種別	英語
査読の有無	査読なし
表題	Microdeletion in Xq28 with a polymorphic inversion in a patient with FLNA-associated progressive lung disease.
掲載誌名	正式名：Respiratory investigation 略　 称：Respir Investig ISSNコード：22125353/22125345
掲載区分	国外
巻・号・頁	57(4),pp.395-398
著者・共著者	Hirasawa Kyoko, Ito Susumu, Osawa Makiko, Nagata Satoru
発行年月	2019/07
概要	Lung phenotype was reported as a novel phenotype in patients with mutations in the filamin A gene (FLNA) in 2011. FLNA mutations can result in pulmonary hyperinflation during the neonatal period or early infancy with progressive respiratory failure, culminating in a diagnosis of FLNA-associated progressive lung disease, particularly if the patient has periventricular nodular heterotopia and cardiac complications, such as patent ductus arteriosus, atrial septal defect, and pulmonary hypertension. We report the first Japanese case of FLNA-associated progressive lung disease caused by a microdeletion in Xq28 encompassing the FLNA gene with a polymorphic inversion.
DOI	10.1016/j.resinv.2019.02.008
PMID	30987847