Item type |
itemtype_ver1(1) |
公開日 |
2023-10-25 |
タイトル |
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タイトル |
Clinical and genetic features of cystic fibrosis in Japan |
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言語 |
en |
著者 |
Kozawa, Yuka
Yamamoto, Akiko
Nakakuki, Miyuki
Fujiki, Kotoyo
Kondo, Shiho
Okada, Takuto
Fukuyasu, Tomoya
Yamaguchi, Makoto
Taniguchi, Itsuka
Nomura, Nao
Liu, Libin
Higuchi, Mayuko
Niwa, Erina
Sohma, Yoshiro
Naruse, Satoru
Takeyama, Yoshifumi
Ishiguro, Hiroshi
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アクセス権 |
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アクセス権 |
open access |
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アクセス権URI |
http://purl.org/coar/access_right/c_abf2 |
権利 |
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言語 |
en |
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権利情報 |
This version of the article has been accepted for publication, after peer review (when applicable) and is subject to Springer Nature’s AM terms of use, but is not the Version of Record and does not reflect post-acceptance improvements, or any corrections. The Version of Record is available online at: http://dx.doi.org/10.1038/s10038-023-01160-2 |
キーワード |
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主題Scheme |
Other |
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主題 |
Disease genetics |
キーワード |
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主題Scheme |
Other |
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主題 |
Gastrointestinal diseases |
内容記述 |
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内容記述タイプ |
Abstract |
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内容記述 |
Cystic fibrosis (CF) is an autosomal recessive disease caused by pathogenic variants in CF transmembrane conductance regulator (CFTR). While CF is the most common hereditary disease in Caucasians, it is rare in East Asia. In the present study, we have examined clinical features and the spectrum of CFTR variants of CF patients in Japan. Clinical data of 132 CF patients were obtained from the national epidemiological survey since 1994 and CF registry. From 2007 to 2022, 46 patients with definite CF were analyzed for CFTR variants. All exons, their boundaries, and part of promoter region of CFTR were sequenced and the presence of large deletion and duplications were examined by multiplex ligation-dependent probe amplification. CF patients in Japan were found to have chronic sinopulmonary disease (85.6%), exocrine pancreatic insufficiency (66.7%), meconium ileus (35.6%), electrolyte imbalance (21.2%), CF-associated liver disease (14.4%), and CF-related diabetes (6.1%). The median survival age was 25.0 years. The mean BMI percentile was 30.3%ile in definite CF patients aged < 18 years whose CFTR genotypes were known. In 70 CF alleles of East Asia/Japan origin, CFTR-dele16-17a-17b was detected in 24 alleles, the other variants were novel or very rare, and no pathogenic variants were detected in 8 alleles. In 22 CF alleles of Europe origin, F508del was detected in 11 alleles. In summary, clinical phenotype of Japanese CF patients is similar to European patients, but the prognosis is worse. The spectrum of CFTR variants in Japanese CF alleles is entirely different from that in European CF alleles. |
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言語 |
en |
出版者 |
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出版者 |
SpringerNature |
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言語 |
en |
言語 |
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言語 |
eng |
資源タイプ |
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資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
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資源タイプ |
journal article |
出版タイプ |
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出版タイプ |
AM |
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出版タイプResource |
http://purl.org/coar/version/c_ab4af688f83e57aa |
関連情報 |
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関連タイプ |
isVersionOf |
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識別子タイプ |
DOI |
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関連識別子 |
https://doi.org/10.1038/s10038-023-01160-2 |
収録物識別子 |
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収録物識別子タイプ |
PISSN |
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収録物識別子 |
1434-5161 |
書誌情報 |
en : Journal of Human Genetics
巻 68,
号 10,
p. 671-680,
発行日 2023-10
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ファイル公開日 |
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日付 |
2024-04-01 |
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日付タイプ |
Available |