Congenital Central Hypoventilation Syndrome: A Novel Mutation of the RET Gene in an Isolated Case.
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- KANAI MASAYO
- Department of Pediatrics, Yamagata University School of Medicine
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- NUMAKURA CHIKAHIKO
- Department of Pediatrics, Yamagata University School of Medicine
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- SASAKI AYAKO
- Department of Pediatrics, Yamagata University School of Medicine
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- SHIRAHATA EMI
- Department of Pediatrics, Yamagata University School of Medicine
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- AKABA KAZUHIRO
- Department of Pediatrics, Yamagata University School of Medicine
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- HASHIMOTO MOTOYA
- Department of Neonatal Intensive Care Unit, Saiseikai Yamagata Saisei Hospital
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- HASEGAWA HISAYA
- Department of Neonatology, Matsudo City Hospital
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- SHIRASAWA SENJI
- Department of Genetics, Medical Institute of Bioregulation, Kyusyu University
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- HAYASAKA KIYOSHI
- Department of Pediatrics, Yamagata University School of Medicine
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Recently, a few genetic abnormalities were identified in congenital central hypoventilation syndrome (CCHS or Ondine’s curse). CCHS is often associated with other neurocristopathies, especially with Hirschsprung’s disease (HSCR). Mutations of the genes involved in the receptor tyrosine kinase RET (REarranged during Transfection) (RET)-glial cell line-derived neurotrophic factor (GDNF) and/or endothelin 3 (EDN3)-endothelin receptor-B (EDNRB) signaling pathway have been found in some of HSCR patients. In this study, we analyzed candidates for HSCR, namely the RET, GDNF, EDN3 and EDNRB genes in three isolated CCHS patients to confirm the hypothesis that some CCHS patients have a common genetic abnormality with patients having HSCR or other neurocristopathies. We found a novel R114H mutation of the RET gene in one patient. The R114H mutation is unlikely to be a polymorphism and appears to be associated with CCHS. In addition, we also examined the HOX11L2 (RNX) gene, for which knock-out mice showed CCHS-like syndrome in these isolated CCHS patients and did not detected any mutation. Further cases should be analyzed for more candidates to clarify the pathophysiology of CCHS.
収録刊行物
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- The Tohoku Journal of Experimental Medicine
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The Tohoku Journal of Experimental Medicine 196 (4), 241-246, 2002
東北ジャーナル刊行会
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詳細情報 詳細情報について
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- CRID
- 1390001204239767680
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- NII論文ID
- 130004459170
- 10012575762
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- NII書誌ID
- AA00863920
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- COI
- 1:CAS:528:DC%2BD38Xlt1Cgt78%3D
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- ISSN
- 13493329
- 00408727
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- PubMed
- 12086152
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- 本文言語コード
- en
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- データソース種別
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- JaLC
- Crossref
- PubMed
- CiNii Articles
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- 抄録ライセンスフラグ
- 使用不可