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Clinical Characteristics of Fragile X Syndrome Patients in Japan
https://repository.lib.tottori-u.ac.jp/records/4668
https://repository.lib.tottori-u.ac.jp/records/46687b91e3ae-96e7-4764-9648-ede8fbaee4ea
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
yam64(1)_030.pdf (528.2 kB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
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| 公開日 | 2021-03-17 | |||||
| タイトル | ||||||
| タイトル | Clinical Characteristics of Fragile X Syndrome Patients in Japan | |||||
| 言語 | en | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| キーワード | ||||||
| 主題 | CGG repeat expansion | |||||
| キーワード | ||||||
| 主題 | FMR1 gene | |||||
| キーワード | ||||||
| 主題 | fragile X syndrome | |||||
| キーワード | ||||||
| 主題 | genetic testing | |||||
| キーワード | ||||||
| 主題 | intellectual disability | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題 | CGG repeat expansion | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題 | FMR1 gene | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題 | fragile X syndrome | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題 | genetic testing | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題 | intellectual disability | |||||
| 資源タイプ | ||||||
| 資源タイプ | journal article | |||||
| 著者 |
岡崎, 哲也
× 岡崎, 哲也× 足立, 香織× ハセガワ, タケシ× 前垣× 難波, 栄二× Matsuura, Kaori× Oyama, Yoshitaka× Nose, Madoka× Shirahata, Emi× Abe, Toshiaki× Hasegawa, Takeshi× Maihara, Toshiro |
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| 著者所属（英） | ||||||
| 言語 | en | |||||
| 値 | Division of Clinical Genetics, Tottori University Hospital | |||||
| 著者所属（英） | ||||||
| 言語 | en | |||||
| 値 | Division of Clinical Genetics, Tottori University Hospital | |||||
| 著者所属（英） | ||||||
| 言語 | en | |||||
| 値 | Research Initiative Center, Organization for Research Initiative and Promotion, Tottori University | |||||
| 著者所属（英） | ||||||
| 言語 | en | |||||
| 値 | Department of Pediatrics, Yokohama City University Medical Center | |||||
| 著者所属（英） | ||||||
| 言語 | en | |||||
| 値 | Department of Pediatrics, Nose Pediatric Clinic | |||||
| 著者所属（英） | ||||||
| 言語 | en | |||||
| 値 | Department of Pediatrics, Yamagata Prefectural Rehabilitation Center for Children with Disabilities | |||||
| 著者所属（英） | ||||||
| 言語 | en | |||||
| 値 | Department of Pediatrics, Ashikaganomori Hospital | |||||
| 著者所属（英） | ||||||
| 言語 | en | |||||
| 値 | Department of Pediatrics, Soka Municipal Hospital | |||||
| 著者所属（英） | ||||||
| 言語 | en | |||||
| 値 | Department of Pediatrics, Hyogo Prefectural Amagasaki General Medical Center | |||||
| 著者所属（英） | ||||||
| 言語 | en | |||||
| 値 | Division of Clinical Genetics, Tottori University Hospital / Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University | |||||
| 著者所属（英） | ||||||
| 言語 | en | |||||
| 値 | Division of Clinical Genetics, Tottori University Hospital / Research Strategy Division, Organization for Research Initiative and Promotion, Tottori University | |||||
| 抄録 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | [Background] Fragile X syndrome (FXS) is a well-known X-linked disorder clinically characterized by intellectual disability and autistic features. However, diagnosed Japanese FXS cases have been fewer than expected, and clinical features of Japanese FXS patients remain unknown. [Methods] We evaluated the clinical features of Japanese FXS patients using the results of a questionnaire-based survey. [Results] We presented the characteristics of seven patients aged 6 to 20 years. Long face and large ears were observed in five of seven patients. Macrocephaly was observed in four of five patients. The meaningful word was first seen at a certain time point between 18 and 72 months (median = 60 months). Developmental quotient or intellectual quotient ranged between 20 and 48 (median = 29). Behavioral disorders were seen in all patients (autistic spectrum disorder in six patients, hyperactivity in five patients). Five patients were diagnosed by polymerase chain reaction analysis, and two patients were diagnosed by the cytogenetic study. All physicians ordered FXS genetic testing for suspicious cases because of clinical manifestations. [Conclusion] In the present study, a long face, large ears, macrocephaly, autistic spectrum disorder, and hyperactivity were observed in almost cases, and these characteristics might be common features in Japanese FXS patients. Our finding indicated the importance of clinical manifestations to diagnosis FXS. However, the sample size of the present study is small, and these features are also seen to patients with other disorders. We consider that genetic testing for FXS should be performed on a wider range of intellectually disabled cases. | |||||
| 書誌情報 |
Yonago Acta Medica en : Yonago Acta Medica 巻 64, 号 1, p. 30-33, 発行日 2021-02-22 |
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| 出版者 | ||||||
| 出版者 | Tottori University Medical Press | |||||
| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 05135710 | |||||
| 書誌レコードID | ||||||
| 収録物識別子タイプ | NCID | |||||
| 収録物識別子 | AA00892882 | |||||
| DOI | ||||||
| 関連タイプ | isIdenticalTo | |||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | 10.33160/yam.2021.02.005 | |||||
| 権利 | ||||||
| 権利情報 | (C) 2021 Tottori University Medical Press | |||||
| 情報源 | ||||||
| 関連名称 | T. Okazaki, K. Adachi, K. Matsuura, et al. Clinical Characteristics of Fragile X Syndrome Patients in Japan. Yonago Acta Medica. 2021, 64(1), 30-33. doi:10.33160/yam.2021.02.005 | |||||
| 関連サイト | ||||||
| 識別子タイプ | URI | |||||
| 関連識別子 | http://www.lib.tottori-u.ac.jp/yam/yam/yam64-1/64-1contents.html | |||||
| 関連名称 | http://www.lib.tottori-u.ac.jp/yam/yam/yam64-1/64-1contents.html | |||||
| 関連サイト | ||||||
| 識別子タイプ | URI | |||||
| 関連識別子 | https://www.jstage.jst.go.jp/article/yam/64/1/64_2021.02.005/_article/-char/ja | |||||
| 関連名称 | https://www.jstage.jst.go.jp/article/yam/64/1/64_2021.02.005/_article/-char/ja | |||||
| 著者版フラグ | ||||||
| 出版タイプ | VoR | |||||
| EISSN | ||||||
| 値 | 13468049 | |||||
