Clinical characteristics of Pallister-Hall syndrome in Japan

2011 Fiscal Year Final Research Report

• Project/Area Number: 22790972
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Pediatrics
• Research Institution: Shinshu University
• Principal Investigator: NARUMI Yoko 信州大学, 医学部, 助教 (60523074)
• Project Period (FY): 2010 – 2011
• Keywords: パリスターホール症候群 / 視床下部過誤腫 / 多指症 / 外性器異常

Research Abstract

Pallister-Hall syndrome(PHS) is a rare congenital disorder, characterized by hypothalamic hamartome, and polydactyly. We performed molecular genetics analysis and investigated clinical manifestations in Japanese patients with PHS. In this study, we aimed to establish clinical presentation of PHS in Japan. GLI3 mutation-positive patients, including women without hypopituitarism had urogenital abnormalities. These result suggested that urogenital abnormalities in PHS have little association with hypopituitarism. The present study showed that clinical investigation of urogenital abnormalities are considered in patients with PHS, even those without hypopituitarism and GLI3 gene might be related to urogenital development.

Research Products

• [Journal Article] Clinical variability in patients with NOTCH2 mutations : report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome (2012)
  • Author(s): Narumi Y
  • Journal Title: Am J Med Genet A
  • Peer Reviewed
• [Journal Article] Fukushima Y Myelodysplastic syndrome in a child with 15q24 deletion syndrome (2012)
  • Author(s): Narumi Y, Shiohara M, Wakui K, Hama A, Kojima S, Yoshikawa K, Amano Y, Kosho T
  • Journal Title: Am J Med Genet A Pages: 412-416
  • Peer Reviewed
• [Journal Article] Fukushima Y Hypomyelination with atrophy of the basal ganglia and cerebellum in an infant with Down syndrome (2011)
  • Author(s): Narumi Y, Shiihara T, Yoshihashi H, Sakazume S, van der Knaap MS, Nishimura-Tadaki A, Matsumoto N
  • Journal Title: Clin Dysmorphol Pages: 166-167
  • Peer Reviewed
• [Journal Article] Genital abnormalities in Pallister-Hall syndrome : Report of two patients and review of the literature (2010)
  • Author(s): Narumi Y, Kosho T, Tsuruta G, Shiohara M, Shimazaki E, Mori T, Shimizu A, Igawa Y, Nishizawa S, Takagi K, Kawamura R, Wakui K, Fukushima Y
  • Journal Title: Am J Med Genet A Pages: 3143-3147
  • Peer Reviewed
• [Presentation] NOTCH2遺伝子変異を伴うHajdu-Cheney症候群の1例 (2011)
  • Author(s): 鳴海洋子、古庄知己、中村恒一、西村玄、福嶋義光
  • Organizer: 日本人類遺伝学会第56回大会
  • Place of Presentation: 幕張
  • Year and Date: 2011-11-12
• [Presentation] 好中球減少を伴う15q24欠失症候群の1例 (2011)
  • Author(s): 鳴海洋子、塩原正明、涌井敬子、血小板減少
  • Organizer: 日本小児遺伝学会第34回学術集会
  • Place of Presentation: 横浜
  • Year and Date: 2011-08-11
• [Presentation] Fukushima Y Genital abnormalities in Pallister-Hall syndrome : two case report (2010)
  • Author(s): Narumi Y, Kosho T, Tsuruta G, Shiohara M, Shimazaki E, Mori T, Shimizu A, Igawa Y, Kawamura R, Wakui K
  • Organizer: 60th Annual Meeting American Society of Human Genetics
  • Place of Presentation: 米国、ワシントンDC
  • Year and Date: 2010-11-05
• [Presentation] 福嶋義光Pallister-Hall症候群3例の臨床症状の検討 (2010)
  • Author(s): 鳴海洋子、古庄知己、鶴田悟郎、塩原正明、井川靖彦、川目裕、河村理恵、涌井敬子、福嶋義光
  • Organizer: 日本人類遺伝学会第55回大会
  • Place of Presentation: さいたま市
  • Year and Date: 2010-10-30
• [Presentation] 信州大学病院における「アレイ外来」の取り組み (2010)
  • Author(s): 鳴海洋子、古庄知己、山下浩美、玉井眞理子、河村理恵、涌井敬子、関島良樹、櫻井晃洋、福嶋義光
  • Organizer: 第33回日本遺伝カウンセリング学会学術集会
  • Place of Presentation: 東京
  • Year and Date: 2010-05-29
• [Presentation] Pallister-Hall症候群3例の臨床症状の検討 (2010)
  • Author(s): 鳴海洋子、古庄知己、鶴田悟郎、塩原正明、井川靖彦、川目裕、河村理恵、涌井敬子、福嶋義光
  • Organizer: 第33回日本小児遺伝学会学術集会
  • Place of Presentation: 盛岡
  • Year and Date: 2010-04-22
• [Book] 今日の小児治療指針第15版 (2012)
  • Author(s): 鳴海洋子
  • Total Pages: 188
  • Publisher: 医学書院