Art

J-GLOBAL ID：201702212380694118   Reference number：17A1513450

Novel splice site mutation in GATA3 in a patient with HDR syndrome

HDR症候群患者におけるGATA3の新しいスプライス部位変異

Author (10)： Matsuo Kumihiro (Department of Pediatrics, Asahikawa Medical University, Hokkaido, Japan) ,  Kobayashi Arisa (Department of Endocrinology and Metabolism, Tokyo Teishin Hospital, Tokyo, Japan) ,  Tanahashi Yusuke (Department of Pediatrics, Asahikawa Medical University, Hokkaido, Japan) ,  Maruyama Satoko (Department of Endocrinology and Metabolism, Tokyo Teishin Hospital, Tokyo, Japan) ,  Niitsu Yoshihiro (Department of Endocrinology and Metabolism, Tokyo Teishin Hospital, Tokyo, Japan) ,  Katsuta Hidenori (Department of Endocrinology and Metabolism, Tokyo Teishin Hospital, Tokyo, Japan) ,  Furuya Akiko (Department of Pediatrics, Asahikawa Medical University, Hokkaido, Japan) ,  Suzuki Shigeru (Department of Pediatrics, Asahikawa Medical University, Hokkaido, Japan) ,  Kawamura Mitsunobu (Department of Endocrinology and Metabolism, Tokyo Teishin Hospital, Tokyo, Japan) ,  Azuma Hiroshi (Department of Pediatrics, Asahikawa Medical University, Hokkaido, Japan)
Material： Clinical Pediatric Endocrinology  (Clin Pediatr Endocrinol)
Volume： 26  Issue： 4  Page： 271-273(J-STAGE)  Publication year： 2017 
JST Material Number： L4217A  ISSN： 0918-5739  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： *hereditary disease ,...
Semi thesaurus term： *HDR症候群 ,...

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Author keywords (3)： HDR syndrome ,  GATA3 ,  novel splice site mutation

JST classification (4)： Basic medicine on endocrine system  (GL01020Q) ,  Molecular genetics in general  (EC02010J) ,  Basic otorhinolaryngology  (GQ01020F) ,  Basic medicine on urogenital system  (GM01020T)

Reference (4)：

• 1. Hasegawa, T, Hasegawa, Y, Aso, T, Koto, S, Nagai, T, Tsuchiya, Y, et al. HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13). Am J Med Genet 1997;73: 416-8.
• 2. Van Esch, H, Groenen, P, Nesbit, MA, Schuffenhauer, S, Lichtner, P, Vanderlinden, G, et al. GATA3 haplo-insufficiency causes human HDR syndrome. Nature 2000;406: 419-22.
• 3. Muroya, K, Hasegawa, T, Ito, Y, Nagai, T, Isotani, H, Iwata, Y, et al. GATA3 abnormalities and the phenotypic spectrum of HDR syndrome. J Med Genet 2001;38: 374-80.
• 4. Chiu, WY, Chen, HW, Chao, HW, Yann, LT, Tsai, KS. Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population. J Clin Endocrinol Metab 2006;91: 4587-92.

Terms in the title (4)： HDR症候群 ,  患者 ,  GATA3 ,  スプライス部位変異