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A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency
http://hdl.handle.net/10069/38896
http://hdl.handle.net/10069/388967a5d1360-9d99-4757-a6b6-d1ebf77cb293
名前 / ファイル | ライセンス | アクション |
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JHG64_341.pdf (446.7 kB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2019-07-28 | |||||
タイトル | ||||||
タイトル | A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency | |||||
言語 | ||||||
言語 | eng | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
著者 |
Dateki, Sumito
× Dateki, Sumito× Watanabe, Satoshi× Mishima, Hiroyuki× Shirakawa, Toshihiko× Morikawa, Minoru× Kinoshita, Eiichi× Yoshiura, Koh-ichiro× Moriuchi, Hiroyuki |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | The genetic causes of combined pituitary hormone deficiency remain elusive in most patients. Recently, incompletely penetrant heterozygous mutations in ROBO1 have been described in patients with pituitary stalk interruption syndrome. Herein, we identified a novel homozygous slice site mutation in ROBO1(c.1342+1G>A) using a trio whole-exome sequencing strategy in a 5-year-old Japanese boy who had combined pituitary hormone deficiency, psychomotor developmental delay, severe intellectual disability,sensorineural hearing loss, strabismus, and characteristic facial features, including a broad forehead, micrognathia, and arched eyebrows. Magnetic resonance imaging delineated anterior pituitary hypoplasia, ectopic posterior pituitary, invisible pituitary stalk, thinning of the corpus callosum, and hypoplasia of the pons and midbrain. The phenotypically normal parents (first cousins) were heterozygous for the mutation. The results provide further evidence of ROBO1 being involved in the development of the pituitary gland.A recessive mutation of ROBO1 is a potential novel cause of a syndromic disorder associated with combined pituitary hormone deficiency. |
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書誌情報 |
Journal of Human Genetics 巻 64, 号 4, p. 341-346, 発行日 2019-01-28 |
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出版者 | ||||||
出版者 | Springer Nature Publishing | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 14345161 | |||||
EISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 1435232X | |||||
DOI | ||||||
関連タイプ | isVersionOf | |||||
識別子タイプ | DOI | |||||
関連識別子 | 10.1038/s10038-019-0566-8 | |||||
権利 | ||||||
権利情報 | c 2019, The Author(s), under exclusive licence to The Japan Society of Human Genetics. | |||||
著者版フラグ | ||||||
出版タイプ | AM | |||||
出版タイプResource | http://purl.org/coar/version/c_ab4af688f83e57aa | |||||
引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | Journal of Human Genetics, 64, pp.341?346; 2019 |