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Genetic basis for childhood interstitial lung disease among Japanese infants and children

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Please use this identifier to cite or link to this item:http://hdl.handle.net/2115/70027

Title: Genetic basis for childhood interstitial lung disease among Japanese infants and children
Other Titles: Genetic basis for chILD
Authors: Hayasaka, Itaru Browse this author
Cho, Kazutoshi Browse this author →KAKEN DB
Akimoto, Takuma Browse this author
Ikeda, Masahiko Browse this author
Uzuki, Yutaka Browse this author
Yamada, Masafumi Browse this author
Nakata, Koh Browse this author
Furuta, Itsuko Browse this author →KAKEN DB
Ariga, Tadashi Browse this author →KAKEN DB
Minakami, Hisanori Browse this author →KAKEN DB
Issue Date: Feb-2018
Publisher: Springer Nature
Journal Title: Pediatric Research
Volume: 83
Issue: 2
Start Page: 477
End Page: 483
Publisher DOI: 10.1038/pr.2017.217
PMID: 29569581
Abstract: Background: Genetic variants responsible for childhood interstitial lung disease (chILD) have not been studied extensively in Japanese patients. Methods: The study population consisted of 62 Japanese chILD patients. Twenty-one and four patients had pulmonary hypertension resistant to treatment (PH) and hypothyroidism, respectively. Analyses of genetic variants were performed in all 62 patients for SFTPC and ABCA3, in all 21 PH patients for FOXF1, and in a limited number of patients for NKX2.1. Results: Causative genetic variants for chILD were identified in 11 (18%) patients: SFTPC variants in six, NKX2.1 variants in three, and FOXF1 variants in two patients. No patients had ABCA3 variants. All three and two patients with NKX2.1 variants had hypothyroidism and developmental delay, respectively. We found six novel variants in this study. Conclusion: Mutations in SFTPC, NKX2.1, and FOXF1 were identified among Japanese infants and children with chILD, whereas ABCA3 mutations were rare.
Type: article (author version)
URI: http://hdl.handle.net/2115/70027
Appears in Collections:北海道大学病院 (Hokkaido University Hospital) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 長 和俊

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