Identification of Mendelian disease-causing genes by RNA sequencing

2019 Fiscal Year Annual Research Report

• Project/Area Number: 17K19536
• Research Institution: Sagami Women's University
• Principal Investigator: 鶴崎 美徳 相模女子大学, 栄養科学部, 准教授 (70392040)
• Project Period (FY): 2017-06-30 – 2020-03-31
• Keywords: RNAシークエンス / スプライスサイト変異 / 発現変動遺伝子

Outline of Annual Research Achievements

スプライスサイトの変異が認められた患者検体3例とエクソーム解析で原因不明な患者検体6例を対象にRNAシークエンス解析を行った。その結果、既知のスプライスサイトの変異を認められた症例はRNAシークエンス解析によりスプライス異常を検出することができた。一方、原因不明な症例に関してはRNAシークエンス解析を行い、スプライス異常や発現変動遺伝子に着目したが、原因を特定することができなかった。

Research Products

• [Journal Article] Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15 (2020)
  • Author(s): Murakami Hiroaki、Uehara Tomoko、Tsurusaki Yoshinori、Enomoto Yumi、Kuroda Yukiko、Aida Noriko、Kosaki Kenjiro、Kurosawa Kenji
  • Journal Title: Brain and Development Volume: 42 Pages: 289～292
  • DOI: 10.1016/j.braindev.2019.12.008
  • Peer Reviewed
• [Journal Article] Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome (2020)
  • Author(s): Takizaki Nao、Tsurusaki Yoshinori、Katsumata Kaoru、Enomoto Yumi、Murakami Hiroaki、Muroya Koji、Ishikawa Hiroshi、Aida Noriko、Nishimura Gen、Kurosawa Kenji
  • Journal Title: Human Genome Variation Volume: 7 Pages: 1
  • DOI: 10.1038/s41439-020-0090-6
  • Peer Reviewed / Open Access
• [Journal Article] Two unrelated girls with intellectual disability associated with a truncating mutation in the PPM1D penultimate exon (2019)
  • Author(s): Kuroda Yukiko、Murakami Hiroaki、Yokoi Takayuki、Kumaki Tatsuro、Enomoto Yumi、Tsurusaki Yoshinori、Kurosawa Kenji
  • Journal Title: Brain and Development Volume: 41 Pages: 538～541
  • DOI: 10.1016/j.braindev.2019.02.007
  • Peer Reviewed
• [Journal Article] A novel gene ( FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia (2019)
  • Author(s): Kuroda Yukiko、Murakami Hiroaki、Enomoto Yumi、Tsurusaki Yoshinori、Takahashi Kazumi、Mitsuzuka Kanako、Ishimoto Hitoshi、Nishimura Gen、Kurosawa Kenji
  • Journal Title: Clinical Genetics Volume: 95 Pages: 713～717
  • DOI: 10.1111/cge.13530
  • Peer Reviewed
• [Journal Article] Discordant phenotype caused by CASK mutation in siblings with NF1 (2019)
  • Author(s): Murakami Hiroaki、Kimura Yuichi、Enomoto Yumi、Tsurusaki Yoshinori、Akahira-Azuma Moe、Kuroda Yukiko、Tsuji Megumi、Goto Tomohide、Kurosawa Kenji
  • Journal Title: Human Genome Variation Volume: 6 Pages: 20
  • DOI: 10.1038/s41439-019-0051-0
  • Peer Reviewed / Open Access
• [Journal Article] Hemoglobin beta Kanagawa [c.443A>C; p.(Ter148Serext*21)]: A novel β‐globin gene mutation causing dominantly inherited β‐thalassemia (2019)
  • Author(s): Sugiyama Masanaka、Hamanoue Satoshi、Nagai Jun‐ichi、Tsurusaki Yoshinori、Kurosawa Kenji、Tanaka Mio、Tanaka Yukichi、Goto Hiroaki
  • Journal Title: Pediatric Blood & Cancer Volume: 66 Pages: e27871
  • DOI: 10.1002/pbc.27871
  • Peer Reviewed
• [Journal Article] Novel <i>VRK1</i> Mutations in a Patient with Childhood-onset Motor Neuron Disease (2019)
  • Author(s): Yamaura Genpei、Higashiyama Yuichi、Kusama Kaori、Kunii Misako、Tanaka Kenichi、Koyano Shigeru、Nakashima Mitsuko、Tsurusaki Yoshinori、Miyake Noriko、Saitsu Hirotomo、Iwahashi Yukiko、Joki Hideto、Matsumoto Naomichi、Doi Hiroshi、Tanaka Fumiaki
  • Journal Title: Internal Medicine Volume: 58 Pages: 2715～2719
  • DOI: 10.2169/internalmedicine.2126-18
  • Peer Reviewed / Open Access
• [Journal Article] Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma (2019)
  • Author(s): Fujita Atsushi、Higashijima Takefumi、Shirozu Hiroshi、Masuda Hiroshi、Sonoda Masaki、Tohyama Jun、Kato Mitsuhiro、Nakashima Mitsuko、Tsurusaki Yoshinori、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Miyatake Satoko、Miyake Noriko、Fukuda Masafumi、Kameyama Shigeki、Saitsu Hirotomo、Matsumoto Naomichi
  • Journal Title: Neurology Volume: 93 Pages: e237～e251
  • DOI: 10.1212/WNL.0000000000007774
  • Peer Reviewed
• [Journal Article] A female patient with X‐linked Ohdo syndrome of the Maat‐Kievit‐Brunner phenotype caused by a novel variant of MED12 (2019)
  • Author(s): Murakami Hiroaki、Enomoto Yumi、Tsurusaki Yoshinori、Sugio Yoshitsugu、Kurosawa Kenji
  • Journal Title: Congenital Anomalies Volume: 60 Pages: 91～93
  • DOI: 10.1111/cga.12350
  • Peer Reviewed
• [Journal Article] A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2 (2019)
  • Author(s): Ohashi Ikuko、Enomoto Yumi、Naruto Takuya、Tsurusaki Yoshinori、Kuroda Yukiko、Ishikawa Hiroshi、Ohyama Makiko、Aida Noriko、Nishimura Gen、Kurosawa Kenji
  • Journal Title: Human Genome Variation Volume: 6 Pages: 40
  • DOI: 10.1038/s41439-019-0071-9
  • Peer Reviewed / Open Access
• [Journal Article] Genetic abnormalities in a large cohort of Coffin?Siris syndrome patients (2019)
  • Author(s): Sekiguchi Futoshi、Tsurusaki Yoshinori et al.
  • Journal Title: Journal of Human Genetics Volume: 64 Pages: 1173～1186
  • DOI: 10.1038/s10038-019-0667-4
  • Peer Reviewed
• [Journal Article] Whole‐exome sequencing reveals the subclonal expression of NUP214 ‐ ABL1 fusion gene in T‐cell acute lymphoblastic leukemia (2019)
  • Author(s): Tsurusaki Yoshinori、Nagai Jun‐ichi、Fujita Sachio、Sugiyama Masanaka、Nakamura Wataru、Hayashi Akiko、Miyagawa Naoyuki、Keino Dai、Yokosuka Tomoko、Iwasaki Fuminori、Hamanoue Satoshi、Shiomi Masae、Goto Shoko、Kurosawa Kenji、Goto Hiroaki
  • Journal Title: Pediatric Blood & Cancer Volume: 67 Pages: e28019
  • DOI: 10.1002/pbc.28019
  • Peer Reviewed
• [Journal Article] Novel USP9X variants in two patients with X-linked intellectual disability (2019)
  • Author(s): Tsurusaki Yoshinori、Kuroda Yukiko、Yamanouchi Yasuko、Kondo Eisuke、Ouchi Kazunobu、Kimura Yuichi、Enomoto Yumi、Aida Noriko、Masuno Mitsuo、Kurosawa Kenji
  • Journal Title: Human Genome Variation Volume: 6 Pages: 49
  • DOI: 10.1038/s41439-019-0081-7
  • Peer Reviewed / Open Access
• [Presentation] Pathogenic variants in 77 individuals with Coffin-Siris syndrome (2019)
  • Author(s): F. Sekiguchi, N. Miyake, Y. Tsurusaki, N. Matsumoto
  • Organizer: American Society of Human Genetics 2019 Annual Meeting
  • Int'l Joint Research
• [Presentation] Novel mutations of COL4A1 in four Japanese patients with variable CNS involvements (2019)
  • Author(s): N. Nishimura, Y. Enomoto, Y. Tsurusaki, T. Kumaki, H. Murakami, Y. Kuroda, T. Goto, K. Kurosawa
  • Organizer: American Society of Human Genetics 2019 Annual Meeting
  • Int'l Joint Research
• [Presentation] Complex rearrangements of CREBBP detected in patients with Rubinstein-Taybi syndrome (RSTS) (2019)
  • Author(s): Y. Enomoto, Y. Tsurusaki, Y. Kuroda, H. Murakami, Y. Kimura, S. Shiiya, T. Naruto, Y. Kido, K. Kurosawa
  • Organizer: American Society of Human Genetics 2019 Annual Meeting
  • Int'l Joint Research
• [Presentation] The refinement of 16p13.3 microdeletion syndrome from a case presentation of a girl with epilepsy, intellectual disability, and distinctive dysmorphic features (2019)
  • Author(s): Y. Kuroda, H. Murakami, Y. Kimura, Y. Enomoto, Y. Tsurusaki, T. Uehara, K. Kosaki, K. Kurosawa
  • Organizer: American Society of Human Genetics 2019 Annual Meeting
  • Int'l Joint Research
• [Presentation] 多発性腫瘍素因を認めたCDC73を含む1q31.2q41 構造異常の1 例 (2019)
  • Author(s): 西村 直人、榎本 友美、鶴﨑 美徳、熊木 達郎、村上 博昭、黒田 友紀子、齋藤 敏幸、升野 光雄、黒澤 健司
  • Organizer: 日本人類遺伝学会第64回大会
• [Presentation] NAA10のN 末端アセチルトランスフェラーゼドメインに変異を認めた2 症例 (2019)
  • Author(s): 村上 博昭、榎本 友美、西村 直人、熊木 達郎、鶴﨑 美徳、黒田 友紀子、黒澤 健司
  • Organizer: 日本人類遺伝学会第64回大会
• [Presentation] GNB1遺伝子変異患者で神経脆弱性が示唆されたの症例の検討 (2019)
  • Author(s): 熊木 達郎、木村 雄一、辻 恵、榎本 友美、鶴﨑 美徳、上原 朋子、小崎 健次郎、黒澤 健司、後藤 知英
  • Organizer: 日本人類遺伝学会第64回大会
• [Presentation] 先天性実質性角膜ジストロフィーの日本人1 家系でみつかったDCN 新規変異 (2019)
  • Author(s): 榎本 友美、浅野 みづ季、村上 博昭、黒田 友紀子、鶴﨑 美徳、西村 直人、藤田 剛史、黒澤 健司
  • Organizer: 日本人類遺伝学会第64回大会