Search for novel genes causing congenital lipoid adrenal hyperplasia

2013 Fiscal Year Final Research Report

• 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
• 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 in patients with 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: Endocr J Volume: 61(1) Pages: 35-40
  • DOI: 10.1507/endocrj.EJ13-0353
  • 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: Clin Pediatr Endocrinol Volume: 23(2) Pages: 53–58
  • DOI: 10.1297/cpe.23.53
  • 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) Pages: 782-789
  • DOI: 10.1111/cen.12394
  • Peer Reviewed
• [Journal Article] A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency (2013)
  • Author(s): Yamaguchi R, Kato F, Hasegawa T, Katsumata N, Fukami M, Matsui T, Nagasaki K, Ogata T.
  • Journal Title: Endocr J Volume: 60(7) Pages: 855-859
  • DOI: 10.1507/endocrj.EJ13-0024
  • 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(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) 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] Uniparental disomy of chromosome 8 leading to homozygosity of a CYP11B1 mutation in a patient with congenital adrenal hyperplasia : Implication for a rare etiology of an autosomal recessive disorder
  • Author(s): Matsubara K, Kataoka N, Ogita S, Sano S, Ogata T, Fukami M, Katsumata N.
  • Journal Title: Endocr J Volume: (in press)
  • DOI: 10.1507/endocrj.EJ13-0509
  • Peer Reviewed
• [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
  • Year and Date: 20131010-12
• [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
  • Year and Date: 20130615-18
• [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
  • Year and Date: 20130425-27
• [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
  • Year and Date: 20120920-23
• [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
  • Year and Date: 20120623-26
• [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
  • Year and Date: 20120623-26
• [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
  • Year and Date: 20120419-21
• [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
  • Year and Date: 20111006-08
• [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
  • Year and Date: 20110604-07
• [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