Search for novel genes causing congenital lipoid adrenal hyperplasia

• Project/Area Number: 23591523
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: National Research Institute for Child Health and Development
• Principal Investigator: KATSUMATA NORIYUKI 独立行政法人国立成育医療研究センター, 分子内分布研究部, 研究室長 (10260340)
• Project Period (FY): 2011 – 2013
• Project Status: Completed (Fiscal Year 2013)
• Budget Amount: ¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000); Fiscal Year 2013: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000); Fiscal Year 2012: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000); Fiscal Year 2011: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
• Keywords: 内分泌学 / 遺伝子 / ステロイドホルモン

Research Abstract

Novel candidate genes (FDX1, FDXR, and TRERF1) were analyzed in patients with congenital lipoid adrenal hyperplasia who lacked mutations in genes encoding STAR and P450SCC. No mutations were found in FDX1 and FDXR. One heterozygous mutation resulting in an amino acid substitution was identified in the TRERF1 gene in a patient. Functional significance of the mutation remains to be estimated.

Research Products

• [Journal Article] Prognosis of primary aldosteronism in Japan: results from a nationwide epidemiological study (2014)
  • Author(s): Miyake Y, Tanaka K, Nishikawa T, Naruse M, Takayanagi R, Sasano H, Takeda Y, Shibata H, Sone M, Satoh F, Yamada M, Ueshiba H, Katabami T, Iwasaki Y, Tanaka H, Tanahashi Y, Suzuki S, Hasegawa T, Katsumata N, Tajima T, Toshihiko Yanase T
  • Journal Title: Endocrine Journal Volume: 61 Issue: 1 Pages: 35-40
  • DOI: 10.1507/endocrj.EJ13-0353
  • NAID: 130004443933
  • ISSN: 0918-8959, 1348-4540
  • Peer Reviewed
• [Journal Article] Third-generation Aromatase Inhibitor Improved Adult Height in a Japanese Boy with Testotoxicosis (2014)
  • Author(s): Yoshizawa-Ogasawara A, Katsumata N, Horikawa R, Satoh M, Urakami T, Tanaka T.
  • Journal Title: Clinical Pediatric Endocrinology Volume: 23 Issue: 2 Pages: 53-58
  • DOI: 10.1297/cpe.23.53
  • NAID: 130004853602
  • ISSN: 0918-5739, 1347-7358
  • Peer Reviewed
• [Journal Article] Two novel HSD3B2 missense mutations with diverse residual enzymatic activities forΔ5-steroids (2014)
  • Author(s): Takasawa K, Ono M, Hijikata A, Matsubara Y, Katsumata N, Takagi M, Morio T, Ohara O, Kashimada K, Mizutani S.
  • Journal Title: Clin Endocrinol (Oxf) Volume: 80(6) Issue: 6 Pages: 782-789
  • DOI: 10.1111/cen.12394
  • Peer Reviewed
• [Journal Article] Uniparental disomy of chromosome 8 leading to homozygosity of a <i>CYP11B1</i> mutation in a patient with congenital adrenal hyperplasia: Implication for a rare etiology of an autosomal recessive disorder (2014)
  • Author(s): K. Matsubara, N. Kataoka, S. Ogita, S. Sano, T. Ogata, M. Fukami and N. Katsumata
  • Journal Title: Endocrine Journal Volume: 61 Issue: 6 Pages: 629-633
  • DOI: 10.1507/endocrj.EJ13-0509
  • NAID: 130004770452
  • ISSN: 0918-8959, 1348-4540
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency (2013)
  • Author(s): R. Yamaguchi, F. Kato, T. Hasegawa, N. Katsumata, M. Fukami, T. Matsui, K. Nagasaki, T. Ogata.
  • Journal Title: Endocrine Journal Volume: 60 Issue: 7 Pages: 855-859
  • DOI: 10.1507/endocrj.EJ13-0024
  • NAID: 10031195753
  • ISSN: 0918-8959, 1348-4540
  • Peer Reviewed
• [Journal Article] Human glutathione S-transferase A (GSTA) family genes are regulated by steroidogenic factor 1 (SF-1) and are involved in steroidogenesis. (2013)
  • Author(s): Matsumura T, Imamichi Y, Mizutani T, Ju Y, Yazawa T, Kawabe S, Kanno M, Ayabe T, Katsumata N, Fukami M, Inatani M, Akagi Y, Umezawa A, Ogata T, Miyamoto K
  • Journal Title: FASEB J Volume: 27 Issue: 8 Pages: 3198-3208
  • DOI: 10.1096/fj.12-222745
  • Peer Reviewed
• [Journal Article] Triple A syndrome in Japan (2013)
  • Author(s): Ikeda M, Hirano M, Shinoda K, Katsumata N, Furutama D, Nakamura K, Ikeda S, Tanaka T, Hanafusa T, Kitajima H, Kohno H, Nakagawa M, Nakamura Y, Ueno S.
  • Journal Title: Muscle Nerve Volume: 48(3) Issue: 3 Pages: 381-386
  • DOI: 10.1002/mus.23770
  • Peer Reviewed
• [Journal Article] Genetic defects in pregnenolone synthesis (2012)
  • Author(s): Katsumata N.
  • Journal Title: Pediatr Endocrinol Rev Volume: 10(Suppl 1) Pages: 98-109
  • Peer Reviewed
• [Journal Article] Genetic defects in pregnenolone synthesis. (2012)
  • Author(s): Katsumata N
  • Journal Title: Pediatr Endocrinol Rev Volume: 10(Suppl 1) Pages: 98-109
  • Peer Reviewed
• [Journal Article] A case of Allgrove syndrome with a novel IVS7+1G>A mutation of the AAAS gene. (2012)
  • Author(s): Ikemoto S, Sakurai K, Kuwashima N, Saito Y, Miyata I, Katsumata N, Ida H
  • Journal Title: Clin Pediatr Endocrinool Volume: 21 Pages: 11-13
  • NAID: 10031199636
  • Peer Reviewed
• [Journal Article] Familial glucocorticoid deficiency in five Arab kindreds with homozygous point mutations of the ACTH receptor (MC2R): genotype and phenotype correlations. (2011)
  • Author(s): al Kandari H, Katsumata N, al Alwan I, al Balwi M, Rasoul MA
  • Journal Title: Horm Res Paediatr Volume: 76 Pages: 165-171
  • Peer Reviewed
• [Presentation] 自然に思春期が発来したコレステロール側鎖切断酵素欠損症の女児例 (2013)
  • Author(s): 勝又規行,水野晴夫,藤原幾磨,小川英伸
  • Organizer: 第86回日本内分泌学会学術総会
  • Place of Presentation: 仙台
• [Presentation] Spontaneous pubertal presentation in a 46,XX patient with cholesterol side-chain cleavage enzyme deficiency (2013)
  • Author(s): Katsumata N, Mizuno H, Fujiwara I, Ogawa E.
  • Organizer: 95th Annual Meeting of the Endocrine Society
  • Place of Presentation: San Francisco, CA, USA
• [Presentation] 新規MC2R遺伝子変異p.G226Rによる先天性ACTH不応症の1例 (2013)
  • Author(s): 勝又規行,中村豊
  • Organizer: 第47回日本小児内分泌学会学術集会
  • Place of Presentation: 東京
• [Presentation] Spontaneous pubertal presentation in a 46,XX patient with cholesterol side-chain cleavage enzyme deficiency (2013)
  • Author(s): Katsumata N, Mizuno H, Fujiwara I, Ogawa E
  • Organizer: 第95回米国内分泌学会
  • Place of Presentation: 米国カリフォルニア州サンフランシスコ
• [Presentation] 新生児マス・スクリーニングにおける17α-hydroxyprogesterone (17OHP) 軽度から中等度高値症例の解析 (2013)
  • Author(s): 西垣五月, 高橋千恵, 山本晶子, 水野祐介, 宮下健悟, 内木康博, 品川隆, 勝又規行, 堀川玲子
  • Organizer: 第86回日本内分泌学会学術総会
  • Place of Presentation: 仙台
• [Presentation] 新規MC2R遺伝子変異p.G226Rによる先天性ACTH不応症の１例 (2013)
  • Author(s): 勝又規行, 中村豊
  • Organizer: 第47回日本小児内分泌学会学術集会
  • Place of Presentation: 東京
• [Presentation] STAR遺伝子にde novoの新規変異T204Rが確認された先天性リポイド過形成症の1例 (2012)
  • Author(s): 勝又規行,中村俊郎
  • Organizer: 第85回日本内分泌学会学術集会
  • Place of Presentation: 名古屋
• [Presentation] Spectrum of the AAAS gene mutations in Japanese patients with Allgrove syndrome (2012)
  • Author(s): Katsumata N, Ikemoto S.
  • Organizer: 94th Annual Meeting of the Endocrine Society
  • Place of Presentation: Houston, TX, USA
• [Presentation] Two novel HSD3B2 miss-sense mutations with different enzymatic activity forΔ5 steroids : possible cause for elevated levels of 17-hydroxyprogesterone (17-OHP) in 3β-hydroxysteroid dehydrogenase (3β-HSD) deficiency patients (2012)
  • Author(s): Takasawa K, Kashimada K, Ono M, Matsubara Y, Hijikata A, Katsumata N, Takagi M, Ohara O, Morio T, Mizutani S.
  • Organizer: 94th Annual Meeting of the Endocrine Society
  • Place of Presentation: Houston, TX, USA
• [Presentation] Combined 17α-hydroxylase/17,20-lyase deficiency in a Kuwaiti patient caused by a homozygous point mutation in the CYP17A1 gene (2012)
  • Author(s): al Kandari HW, Katsumata N, Kutty SK, ElShafey AE.
  • Organizer: 51st Annual Meeting of the European Society for Pediatric Endocrinology
  • Place of Presentation: Leipzig, Germany
• [Presentation] Spectrum of the AAAS gene mutations in Japanese patients with Allgrove syndrome. (2012)
  • Author(s): Katsumata N, Ikemoto S
  • Organizer: 第74回米国内分泌学会
  • Place of Presentation: 米国テキサス州ヒューストン
• [Presentation] Two novel HSD3B2 miss-sense mutations with different enzymatic activity for Δ5 steroids: possible cause for elevated levels of 17-hydroxyprogesterone (17-OHP) in 3β-hydroxysteroid dehydrogenase (3β-HSD) deficiency patients. (2012)
  • Author(s): Takasawa K, Kashimada K, Ono M, Matsubara Y, Hijikata A, Katsumata N, Takagi M, Ohara O, Morio T, Mizutani S
  • Organizer: 第74回米国内分泌学会
  • Place of Presentation: 米国テキサス州ヒューストン
• [Presentation] Combined 17α-hydroxylase/17, 20-lyase deficiency in a Kuwaiti patient caused by a homozygous point mutation in the CYP17A1 gene. (2012)
  • Author(s): al Kandari HW, Katsumata N, Kutty SK, ElShafey AE
  • Organizer: 第51回欧州小児内分泌学会
  • Place of Presentation: ドイツ ライプツィヒ
• [Presentation] Autoimmune polyendocrine syndrome type 1 due to homozygous missense mutation in autoimmune regulator gene AIRE in a consanguineous Saudi family. (2012)
  • Author(s): Al-Dubayee M, Al Alwan I, al Kandari H, Katsumata N, Al Balwi M
  • Organizer: 第51回欧州小児内分泌学会
  • Place of Presentation: ドイツ ライプツィヒ
• [Presentation] STAR遺伝子にde novoの新規変異T204Rが確認された先天性リポイド過形成症の１例. (2012)
  • Author(s): 勝又規行，中村俊郎
  • Organizer: 第85回日本内分泌学会学術集会
  • Place of Presentation: 名古屋
• [Presentation] マススクリーニングを契機に発見された3β-水酸化ステロイド脱水素酵素欠損症の1例. (2012)
  • Author(s): 高澤啓, 鹿島田健一, 松原洋平, 小野真, 高木正稔, 本間桂子, 長谷川奉延, 勝又規行, 森尾友宏, 水谷修紀
  • Organizer: 第85回日本内分泌学会学術集会
  • Place of Presentation: 名古屋
• [Presentation] 自然に思春期が発来したコレステロール側鎖切断酵素欠損症の女児例. (2012)
  • Author(s): 勝又規行, 水野晴夫, 藤原幾磨, 小川英伸
  • Organizer: 第46回日本小児内分泌学会学術集会
  • Place of Presentation: 大阪
• [Presentation] 基質特異的な残存活性の差異をを認めた新規HSD3B2遺伝子変異の検討. (2012)
  • Author(s): 高澤啓, 小野真, 土方敦司, 松原洋平, 勝又規行, 高木正稔, 森尾友宏, 小原収, 鹿島田健一, 水谷修紀
  • Organizer: 第46回日本小児内分泌学会学術集会
  • Place of Presentation: 大阪
• [Presentation] 新規CYP21A2遺伝子変異による非古典型21水酸化酵素欠損症の1例. (2012)
  • Author(s): 菅原秀典, 徳弘悦郎, 志賀健太郎, 勝又規行, 本間桂子, 長谷川奉延
  • Organizer: 第46回日本小児内分泌学会学術集会
  • Place of Presentation: 大阪
• [Presentation] Novel and de novo mutation in the STAR gene in a Japanese patient with congenital lipoid adrenal hyperplasia (2011)
  • Author(s): Katsumata N, Nakamura T.
  • Organizer: 93rd Annual Meeting of the Endocrine Society
  • Place of Presentation: Boston, MA, USA
• [Presentation] 21水酸化酵素欠損症の遺伝子解析ではCYP21A2遺伝子の全イントロンの検索は必須である (2011)
  • Author(s): 勝又規行,堀川玲子
  • Organizer: 第45回日本小児内分泌学会学術集会
  • Place of Presentation: さいたま
• [Presentation] Novel and de novo mutation in the STAR gene in a Japanese patient with congenital lipoid adrenal hyperplasia. (2011)
  • Author(s): Katsumata N, Nakamura T
  • Organizer: 第93回米国内分泌学会
  • Place of Presentation: 米国マサチューセッツ州ボストン
• [Presentation] 21水酸化酵素欠損症の遺伝子解析ではCYP21A2遺伝子の全イントロンの検索は必須である. (2011)
  • Author(s): 勝又規行, 堀川玲子
  • Organizer: 第45回日本小児内分泌学会学術集会
  • Place of Presentation: さいたま市
• [Presentation] STAR遺伝子に新規変異T204Rが確認された先天性リポイド過形成症の１例. (2011)
  • Author(s): 中村俊郎, 勝又規行
  • Organizer: 第45回日本小児内分泌学会学術集会
  • Place of Presentation: さいたま市
• [Presentation] 両則アレルに2種の新規変異を認めた3β-水酸化ステロイド脱水素酵素欠損症の1例. (2011)
  • Author(s): 高澤啓, 鹿島田健一, 松原洋平, 小野真, 高木正稔, 本間桂子, 長谷川奉延, 勝又規行, 森尾友宏, 水谷修紀
  • Organizer: 第45回日本小児内分泌学会学術集会
  • Place of Presentation: さいたま市
• [Presentation] 新規の遺伝子変異を認めたAllgrove症候群の一例. (2011)
  • Author(s): 池本智, 櫻井謙, 藤本義隆, 本木隆規, 冨田和江, 桑島成央, 宮田市郎, 齋藤義弘, 勝又規行, 井田博幸
  • Organizer: 第45回日本小児内分泌学会学術集会
  • Place of Presentation: さいたま市
• [Presentation] STAR遺伝子の新規p.T204R変異が見いだされた先天性副腎リポイド過形成症の1例. (2011)
  • Author(s): 勝又規行, 中村俊郎
  • Organizer: 第19回日本ステロイドホルモン学会学術集会
  • Place of Presentation: 福岡市
• [Book] 先天性副腎リポイド過形成症(Prader病).症候群ハンドブック初版(井村裕夫編) (2011)
  • Author(s): 勝又規行(東京)
  • Total Pages: 439
  • Publisher: 中山書店
• [Book] 先天性副腎リポイド過形成症（Prader病）. 症候群ハンドブック 初版（井村裕夫編） (2011)
  • Author(s): 勝又規行
  • Total Pages: 39
  • Publisher: 中山書店