鈴木 寿人 (スズキ ヒサト)

Suzuki, Hisato

写真a

所属(所属キャンパス)

医学部 臨床遺伝学センター (信濃町)

職名

専任講師(有期)

外部リンク

学歴 【 表示 / 非表示

  • 2014年04月
    -
    2017年03月

    筑波大学, 人間総合科学研究科, 疾患制御医学専攻

    大学院, 卒業

学位 【 表示 / 非表示

  • 医学, 筑波大学大学院, 課程, 2017年03月

免許・資格 【 表示 / 非表示

  • 医師免許, 2009年04月

 

研究分野 【 表示 / 非表示

  • 人類遺伝学

  • 小児科学

研究キーワード 【 表示 / 非表示

  • アレルギー

  • 小児科学

  • 臨床遺伝学

  • 食物アレルギー

 

論文 【 表示 / 非表示

  • CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome

    Uehara T., Takenouchi T., Yamaguchi Y., Daimon Y., Suzuki H., Sakaguchi Y., Kosaki K.

    American Journal of Medical Genetics, Part A (American Journal of Medical Genetics, Part A)  179 ( 4 ) 659 - 662 2019年04月

    ISSN  15524825

     概要を見る

    © 2019 Wiley Periodicals, Inc. Chromosome 12q15 microdeletion syndrome is characterized by intellectual disability and dysmorphic facial features, but the associations between each of the deleted genes and the phenotypes of 12q15 microdeletion syndrome remain unclear. Recently, the smallest region of overlap in 16 previously reported patients was used to define three candidate genes for the 12q15 microdeletion syndrome: CNOT2, KCNMB4, and PTPRB. Among these three candidate genes, CNOT2 maintains the structural integrity of the carbon catabolite repressor 4 (CCR4)-negative on TATA (NOT) complex, which plays a key role in regulating global gene expression, and is essential for the enzymatic activity of the CCR4-NOT complex. Disruption of the CCR4-NOT complex results in dysregulation of global gene expression, and is associated with various human disease processes, including neuronal diseases. Therefore, CNOT2 haploinsufficiency might account for the neurological features of the 12q15 microdeletion syndrome. Herein, we document a 12-year-old female patient with mild intellectual disability and multiple structural abnormalities including cleft lip and palate and 2–3 toe syndactyly. She exhibited dysmorphic facial features such as upslanting and short palpebral fissures, micrognathia, low-set ears, and hypoplastic antihelix. A microarray analysis showed a de novo 1.32-Mb deletion within 12q15 that included CNOT2 and 14 other genes. Remapping of the 12q15 deletion region in the 16 previously reported patients together with that in the newly identified patient indicated that CNOT2 is the only gene that is commonly deleted. These findings suggest that CNOT2 is the prime candidate for the neurological phenotypes of the 12q15 microdeletion syndrome.

  • Schuurs-Hoeijmakers syndrome in two patients from Japan

    Hoshino Y., Enokizono T., Imagawa K., Tanaka R., Suzuki H., Fukushima H., Arai J., Sumazaki R., Uehara T., Takenouchi T., Kosaki K.

    American Journal of Medical Genetics, Part A (American Journal of Medical Genetics, Part A)  179 ( 3 ) 341 - 343 2019年03月

    ISSN  15524825

     概要を見る

    © 2018 Wiley Periodicals, Inc. Schuurs-Hoeijmakers syndrome is a rare disease characterized by intellectual disability and dysmorphic facial features among various physical abnormalities due to PACS1 mutation. To date, 28 patients with a recurrent de novo PACS1 mutation (c.607C > T) have been reported, primarily in Western populations. Here, we describe two Japanese patients with Schuurs-Hoeijmakers syndrome with a recurrent PACS1 mutation. In addition to the typical clinical symptoms, each patient presented novel clinical phenotypes. One patient presented with involuntary movements and was treated with trihexyphenidyl hydrochloride. We hypothesized that the PACS1 mutation leads to an inherent dopaminergic insufficiency that underlies the developing symptoms along with the neurodevelopmental processes. The second patient was diagnosed with lipomyelomeningocele during an examination for severe constipation at the age of 2 years and 8 months. The diagnosis of lipomyelomeningocele in this patient was delayed due to the lack of cutaneous lesions. As the majority of patients with PACS1 mutation present constipation, underdiagnosis of lipomyelomeningocele is a possibility. As the phenotypic expansion of the patients with Schuurs-Hoeijmakers syndrome was not fully recognized, additional studies are needed to clarify the clinical spectrum.

  • SATB2-associated syndrome in patients from Japan: Linguistic profiles

    Yamada M., Uehara T., Suzuki H., Takenouchi T., Yoshihashi H., Suzumura H., Mizuno S., Kosaki K.

    American Journal of Medical Genetics, Part A (American Journal of Medical Genetics, Part A)  2019年

    ISSN  15524825

     概要を見る

    © 2019 Wiley Periodicals, Inc. Cleft palate can be classified as either syndromic or nonsyndromic. SATB2-associated syndrome is one example of a syndromic cleft palate that is accompanied by intellectual disability, and various dental anomalies. SATB2-associated syndrome can be caused by several different molecular mechanisms including intragenic mutations and deletions of SATB2. Here, we report two patients with SATB2 truncating mutations (p.Arg239* and p.Asp702Thrfs*38) and one with a 4.4 megabase deletion including the SATB2 locus. All three patients had cleft palate and other dysmorphic features including macrodontia wide diastema. None of the three patients had acquired any meaningful words at the age of 5 years. In a review of the linguistic natural history of presently reported three patients and 30 previously reported patients, only two patients had attained verbal skills beyond speaking a few words. This degree of delayed speech contrasts with that observed in the prototypic form of syndromic cleft palate, 22q11.2 deletion syndrome. The recognition of SATB2-associated syndrome prior to palatoplasty would be important for plastic surgeons and the families of patients because precise diagnosis should provide predictive information regarding the future linguistic and intellectual abilities of the patients. Macrodontia with a wide diastema and cleft palate is a helpful and highly suggestive sign for the diagnosis of SATB2-associated syndrome.

  • Genomic Comparison With Supercentenarians Identifies RNF213 as a Risk Gene for Pulmonary Arterial Hypertension

    Suzuki H., Kataoka M., Hiraide T., Aimi Y., Yamada Y., Katsumata Y., Chiba T., Kanekura K., Isobe S., Sato Y., Satoh T., Gamou S., Fukuda K., Kosaki K.

    Circulation. Genomic and precision medicine (Circulation. Genomic and precision medicine)  11 ( 12 )  2018年12月

    研究論文(学術雑誌), 共著, 査読有り

  • Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution

    Takenouchi T., Sakamoto Y., Sato H., Suzuki H., Uehara T., Ohsone Y., Kosaki K.

    American Journal of Medical Genetics, Part A (American Journal of Medical Genetics, Part A)  176 ( 12 ) 2777 - 2780 2018年12月

    ISSN  15524825

     概要を見る

    © 2018 Wiley Periodicals, Inc. The TWIST family is a group of highly conserved basic helix–loop–helix transcription factors. In humans, TWIST1 haploinsufficiency causes Saethre–Chotzen syndrome, which is characterized by craniosynostosis. Heterozygous localized TWIST1 and TWIST2 basic domain substitutions exert antimorphic effects to cause Sweeney–Cox syndrome, Barber–Say syndrome, and ablepharon-macrostomia syndrome, respectively. Sweeney–Cox syndrome, Barber–Say syndrome, and ablepharon-macrostomia syndrome share the facial features of ablepharon, hypertelorism, underdevelopment of the eyelids, and cheek pads adjacent to the corners of the mouth. Existence of phenotypic overlap between Saethre–Chotzen syndrome and Sweeney–Cox syndrome remains unknown. Herein, we document a male infant with the distinctive facial features of ablepharon, hypertelorism, cheek pads adjacent to the corners of the mouth, and bilateral coronal suture craniosynostosis who had a de novo heterozygous mutation in the basic domain of TWIST1, that is, c.351C>G p.Glu117Asp. The pathogenicity of this variant was supported by in silico and in vivo evidence. Our review showed that Sweeney–Cox syndrome appears to share many characteristics with Barber–Say syndrome and ablepharon-macrostomia syndrome except for craniosynostosis, which is a cardinal feature of Saethre–Chotzen syndrome. An amino acid substitution from Glu117 to Asp, both of which are the sole members of negatively charged amino acids, resulted in a prototypic Sweeney–Cox syndrome phenotype. This suggests that any amino acid substitutions at Glu117 would likely lead to the Sweeney–Cox syndrome phenotype or lethality. The present observation suggests that a localized TWIST1 basic domain substitution, that is, p.Glu117Asp, in TWIST1 may exert a mild antimorphic effect similar to that of haploinsufficiency, leading to craniosynostosis and ablepharon.

全件表示 >>

競争的資金等の研究課題 【 表示 / 非表示

  • 超長寿者を比較対象とした肺高血圧患者の遺伝子構造異常解析とリスク評価

    2020年04月
    -
    2022年03月

    文部科学省・日本学術振興会, 科学研究費助成事業, 鈴木 寿人, 若手研究, 補助金,  代表

  • 食物アレルギーの発症における腸内細菌叢の役割の解明

    2017年04月
    -
    2020年03月

    文部科学省・日本学術振興会, 科学研究費助成事業, 鈴木 寿人, 若手研究(B), 補助金,  代表

  • 次世代シークエンサーを用いた次世代体外診断用医薬品等の評価手法の在り方に関する研究

    2017年
    -
    2019年

    国立研究開発法人日本医療研究開発機構, 日本医療研究開発機構研究費, 小崎 健次郎, 補助金,  分担

 

社会活動 【 表示 / 非表示

  • 筑波メディカルセンター:喘息アレルギー教室

    2012年09月
    -
    継続中

     概要を見る

    茨城県在住の小児患者を対象に、食物アレルギー、気管支喘息、アトピー性皮膚炎などのアレルギー疾患に対する知識の普及のため、定期的な公開講座を開催する。

所属学協会 【 表示 / 非表示

  • 日本人類遺伝学会, 

    2015年
    -
    継続中
  • 日本小児臨床アレルギー学会, 

    2012年
    -
    継続中
  • 日本アレルギー学会, 

    2012年
    -
    継続中
  • 日本小児科学会, 

    2011年
    -
    継続中