伊藤 進
   Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine
   Position   Assistant Professor
Article types Case report
Language English
Peer review Non peer reviewed
Title Microdeletion in Xq28 with a polymorphic inversion in a patient with FLNA-associated progressive lung disease.
Journal Formal name:Respiratory investigation
Abbreviation:Respir Investig
ISSN code:22125353/22125345
Domestic / ForeginForegin
Volume, Issue, Page 57(4),395-398頁
Author and coauthor Hirasawa Kyoko, Ito Susumu, Osawa Makiko, Nagata Satoru
Publication date 2019/07
Summary 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