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E-brochureMedical Genetics

Master's Program Human Sciences, Graduate School of Medicine
Doctor's Program Medical Science Division, Department of Medical Science, Graduate School of Medicine, Science and Technology

Staff List

Professor KOSHO Tomoki
Senior Assistant Professor WAKUI Keiko, NAKAMUARA Katsuya, TAKANO Kyoko
Assistant Professor YAMAGUCHI Tomomi, KAMIYA Motoko

Summary of Activity

We conduct genetic investigation on human genetic / congenital disorders, in collaboration with Center for Medical Genetics, Shinshu University Hospital. The main theme is to "hunt disease-causing genses" through careful clinical assessment and advanced genetic analyses including next-generation sequencing. Together with clinical studies on these disorders, we aim to make a contribution to establish a society where these patients can live healthy and happy lives.

Research Subject

  • ・ Comprehensive study of hereditary connective tissue disorders, especially Ehlers-Danlos Syndrome Kosho type (musculocontractural EDS-CHST14)
  • ・ Genetic investigation for intellectual disabilities (ID), autism spectrum disorders (ASD), and epilepsy
  • ・ Molecular cytogenetic investigation including microarray and FISH
  • ・ Comprehensive genetic analysis(whole exome sequencing, RNA-seq) for congenital multiple malformation and/or intellectual disabilities

Outlook for Research

The best part of clinical genetics is to establish a new disease entity from only one patient.
To find the disease-causing gene could be a breakthrough in understanding the pathophysiology of the disease, developing innovative therapies, and uncovering relevant biological bases.

Major Publications

#Equal contribution *Corresponding author

1. Minatogawa M, Unzaki A, Morisaki H, Syx D, Sonoda T, Janecke AR, Slavotinek A, Voermans NC, Lacassie Y, Mendoza-Londono R, Wierenga KJ, Jayakar P, Gahl WA, Tifft CJ, Figuera LE, Hilhorst-Hofstee Y, Maugeri A, Ishikawa K, Kobayashi T, Aoki Y, Ohura T, Kawame H, Kono M, Mochida K, Tokorodani C, Kikkawa K, Morisaki T, Kobayashi T, Nakane T, Kubo A, Ranells JD, Migita O, Sobey G, Kaur A, Ishikawa M, Yamaguchi T, Matsumoto N, Malfait F, Miyake N, Kosho T. (2021) Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). J Med Genet. Nov 23:jmedgenet-2020-107623. doi: 10.1136/jmedgenet-2020-107623. Epub ahead of print. PMID: 34815299.

2. Minatogawa M, Miyake N, Tsukahara Y, Tanabe Y, Uchiyama T, Matsumoto N, Kosho T. (2021) Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in MAP3K7. Am J Med Genet A. Sep 24. doi: 10.1002/ajmg.a.62516. Epub ahead of print. PMID: 34558790.

3. Minatogawa M, Tsukahara Y, Yuzuriha S, Kosho T. (2021) Detailed clinical and radiological features of the first patient with Elsahy-Waters syndrome in East Asia. Am J Med Genet A. Dec;185(12):3909-3915. doi: 10.1002/ajmg.a.62423. Epub 2021 Jul 19. PMID: 34278706.

4. Yoshizawa T*, Mizumoto S, Takahashi Y, Shimada S, Sugahara K, Nakayama J, Takeda S, Nomura Y, Nitahara-Kasahara Y, Okada T, Matsumoto K, Yamada S, Kosho T*. (2018) Vascular abnormalities in the placenta of Chst14-/- fetuses: implications in the pathophysiology of perinatal lethality of the murine model and vascular lesions in human CHST14/D4ST1 deficiency. Glycobiology 28: 80-89.

5. Yoshinaga T, Nakamura K*, Ishikawa M, Yamaguchi T, Takano K, Wakui K, Kosho T, Yoshida K, Fukushima Y, Sekijima Y. (2017) A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8. Hum Genome Var 4: 17052.

6. Takano K*, Shiba N, Wakui K, Yamaguchi T, Aida N, Inaba Y, Fukushima Y, Kosho T. (2016) Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature. Am J Med Genet A 170: 322-328.

7. Shimizu K, Wakui K*, Kosho T*, Okamoto N, Mizuno S, Itomi K, Hattori S, Nishio K, Samura O, Kobayashi Y, Kako Y, Arai T, Oishi T, Kawame H, Narumi Y, Ohashi H, Fukushima Y. (2014) Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome. Am J Med Genet Part A 164A: 597-609.

8. Kosho T*, Kuniba H, Tanikawa Y, Hashimoto Y, Sakurai H. Natural history and parental experience of children with trisomy 18 based on a questionnaire given to a Japanese trisomy 18 parental support group. Am J Med Genet A 161A: 1531-1542.

9. Miyake N#*, Kosho T#, Mizumoto S#, Furuichi T, Hatamochi A, Nagashima Y, Arai E, Takahashi K, Kawamura R, Wakui K, Takahashi J, Kato H, Yasui H, Ishida T, Ohashi H, Nishimura G, Shiina M, Saitsu H, Tsurusaki Y, Doi H, Fukushima Y, Ikegawa S, Yamada S, Sugahara K, Matsumoto N*. (2010) Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. Hum Mutat 31: 966-974.

10. Kosho T*, Miyake N, Hatamochi A, Takahashi J, Kato H, Miyahara T, Igawa Y, Yasui H, Ishida T, Ono K, Kosuda T, Inoue A, Kohyama M, Hattori T, Ohashi H, Nishimura G, Kawamura R, Wakui K, Fukushima Y, Matsumoto N. (2010) A New Ehlers-Danlos Syndrome With Craniofacial Characteristics, Multiple Congenital Contractures, Progressive Joint and Skin Laxity, and Multisystem Fragility-related Manifestations. Am J Med Genet Part A 152A: 1333-1346.

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