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J-GLOBAL ID：201802214830671072   Reference number：18A0944890

Chimeric TNXA/TNXB Gene Associated with Ehlers-Danlos Syndrome in Japanese Patients with 21-hydroxylase Deficiency

21水酸化酵素欠損症患者におけるTNXA/TNXBキメラ遺伝子の頻度と臨床的特徴

Author (5)： OZAKI KAYO (兵庫県こども病院 代謝内分泌科) ,  MUKOYAMA YURI (虎の門病院 小児科) ,  OKUNO MISAKO (兵庫県こども病院 代謝内分泌科) ,  IIJIMA KAZUMOTO (神戸大 大学院医学系研究科 小児科学分野) ,  GOJI KATSUMI (兵庫県こども病院 代謝内分泌科)
Material： 日本小児科学会雑誌  (Journal of the Japan Pediatric Association)
Volume： 122  Issue： 5  Page： 860-866  Publication year： May. 01, 2018 
JST Material Number： F0896A  ISSN： 0001-6543  CODEN： NIPOA  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： JAPANESE (JA)

Thesaurus term： *enzymoprivicness ,...
Semi thesaurus term： *21水酸化酵素欠損症 ,...

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JST classification (1)： Diagnostics of congenital diseases, deformities.  (GD03020G)

Reference (16)：

• Bristow J, Tee MK, Gitelman SE, et al. Tenascin-X : A novel extracellular matrix protein encoded by the human XB gene overlapping P450c 21B. J Cell Biol 1993 ; 122 : 265-278.
• Gitelman SE, Bristow J, Miller WL. Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus. Mol Cell Biol 1992 ; 12 : 2124-2134.
• Merke DP, Chen W, Morissette R, et al. Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2013 ; 98 : E379-E387.
• Koppens PF, Hoogenboezem T, Degenhart HJ. Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients : TNXB-TNXA hybrids in apparent large-scale gene conversions. Hum Mol Genet 2002 ; 11 : 2581-2590.
• Lee HH, Lee YJ, Lin CY. PCR-based detection of the CYP21 deletion and TNXA/TNXB hybrid in the RCCX module. Genomics 2004 ; 83 : 944-950.

Terms in the title (5)： 21水酸化酵素欠損症 ,  患者 ,  キメラ遺伝子 ,  頻度 ,  臨床