Naomichi Matsumoto

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Naomichi Matsumoto
Native name 松本 直通
Born (1961-08-03) August 3, 1961 (age 52)
Saga Prefecture, Japan
Nationality Japanese
Fields Medical genetics
Institutions Yokohama City University
University of Chicago
Nagasaki University
Alma mater Nagasaki University
Kyushu University
Doctoral advisor Norio Niikawa
Known for Sotos syndrome
Marfan syndrome type II
Ohtahara syndrome
Coffin-Siris syndrome

Naomichi Matsumoto (松本 直通 Matsumoto Naomichi?, born August 3, 1961) is a Japanese physician and medical geneticist who identified several causative genes for human diseases, including Sotos syndrome (2002),[1] Marfan syndrome type II (2004),[2] Ohtahara syndrome (2008),[3] West syndrome (2010),[4] Microphthalmia with limb anomalies (2011),[5] Autosomal-recessive cerebellar ataxias (2011),[6] Hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC) (2011),[7] Porencephaly (2012),[8] and Coffin-Siris syndrome (2012).[9]

Biography[edit]

Matsumoto was born in Saga Prefecture, Japan, and completed his M.D. in 1986 from Kyushu University School of Medicine.[10] After residency in obstetrics and gynecology at Kyushu University Hospital, he worked as an obstetrician and gynecologist for several years.[10] Wishing to pursue advanced study in medical genetics, he went to Nagasaki University to study as a graduate student under Norio Niikawa, who discovered Kabuki syndrome. He obtained his doctorate in Human Genetics in 1997 from the same institution, before becoming a postdoctoral fellow at the University of Chicago.[10] He was appointed Professor and Chairman of the Department of Human Genetics at Yokohama City University School of Medicine in 2003.

References[edit]

  1. ^ Kurotaki, N; Imaizumi, K; Harada, N; Masuno, M; Kondoh, T; Nagai, T; Ohashi, H; Naritomi, K; Tsukahara, M; Makita, Y; Sugimoto, T; Sonoda, T; Hasegawa, T; Chinen, Y; Tomita Ha, H. A.; Kinoshita, A; Mizuguchi, T; Yoshiura Ki, K; Ohta, T; Kishino, T; Fukushima, Y; Niikawa, N; Matsumoto, N (2002). "Haploinsufficiency of NSD1 causes Sotos syndrome". Nature Genetics 30 (4): 365–6. doi:10.1038/ng863. PMID 11896389.  edit
  2. ^ Mizuguchi, T; Collod-Beroud, G; Akiyama, T; Abifadel, M; Harada, N; Morisaki, T; Allard, D; Varret, M; Claustres, M; Morisaki, H; Ihara, M; Kinoshita, A; Yoshiura, K; Junien, C; Kajii, T; Jondeau, G; Ohta, T; Kishino, T; Furukawa, Y; Nakamura, Y; Niikawa, N; Boileau, C; Matsumoto, N (2004). "Heterozygous TGFBR2 mutations in Marfan syndrome". Nature Genetics 36 (8): 855–60. doi:10.1038/ng1392. PMC 2230615. PMID 15235604.  edit
  3. ^ Saitsu, H; Kato, M; Mizuguchi, T; Hamada, K; Osaka, H; Tohyama, J; Uruno, K; Kumada, S; Nishiyama, K; Nishimura, A; Okada, I; Yoshimura, Y; Hirai, S; Kumada, T; Hayasaka, K; Fukuda, A; Ogata, K; Matsumoto, N (2008). "De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy". Nature Genetics 40 (6): 782–8. doi:10.1038/ng.150. PMID 18469812.  edit
  4. ^ Saitsu, H; Tohyama, J; Kumada, T; Egawa, K; Hamada, K; Okada, I; Mizuguchi, T; Osaka, H; Miyata, R; Furukawa, T; Haginoya, K; Hoshino, H; Goto, T; Hachiya, Y; Yamagata, T; Saitoh, S; Nagai, T; Nishiyama, K; Nishimura, A; Miyake, N; Komada, M; Hayashi, K; Hirai, S; Ogata, K; Kato, M; Fukuda, A; Matsumoto, N (2010). "Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay". The American Journal of Human Genetics 86 (6): 881–91. doi:10.1016/j.ajhg.2010.04.013. PMC 3032058. PMID 20493457.  edit
  5. ^ Okada, I; Hamanoue, H; Terada, K; Tohma, T; Megarbane, A; Chouery, E; Abou-Ghoch, J; Jalkh, N; Cogulu, O; Ozkinay, F; Horie, K; Takeda, J; Furuichi, T; Ikegawa, S; Nishiyama, K; Miyatake, S; Nishimura, A; Mizuguchi, T; Niikawa, N; Hirahara, F; Kaname, T; Yoshiura, K; Tsurusaki, Y; Doi, H; Miyake, N; Furukawa, T; Matsumoto, N; Saitsu, H (2011). "SMOC1 is essential for ocular and limb development in humans and mice". The American Journal of Human Genetics 88 (1): 30–41. doi:10.1016/j.ajhg.2010.11.012. PMC 3014372. PMID 21194678.  edit
  6. ^ Doi, H; Yoshida, K; Yasuda, T; Fukuda, M; Fukuda, Y; Morita, H; Ikeda, S; Kato, R; Tsurusaki, Y; Miyake, N; Saitsu, H; Sakai, H; Miyatake, S; Shiina, M; Nukina, N; Koyano, S; Tsuji, S; Kuroiwa, Y; Matsumoto, N (2011). "Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation". The American Journal of Human Genetics 89 (2): 320–7. doi:10.1016/j.ajhg.2011.07.012. PMC 3155161. PMID 21835308.  edit
  7. ^ Saitsu, H; Osaka, H; Sasaki, M; Takanashi, J; Hamada, K; Yamashita, A; Shibayama, H; Shiina, M; Kondo, Y; Nishiyama, K; Tsurusaki, Y; Miyake, N; Doi, H; Ogata, K; Inoue, K; Matsumoto, N (2011). "Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy". The American Journal of Human Genetics 89 (5): 644–51. doi:10.1016/j.ajhg.2011.10.003. PMC 3213392. PMID 22036171.  edit
  8. ^ Yoneda, Y.; Haginoya, K.; Arai, H.; Yamaoka, S.; Tsurusaki, Y.; Doi, H.; Miyake, N.; Yokochi, K.; Osaka, H.; Kato, M.; Matsumoto, N.; Saitsu, H. (2012). "De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly". The American Journal of Human Genetics 90: 86. doi:10.1016/j.ajhg.2011.11.016.  edit
  9. ^ Tsurusaki, Y; Okamoto, N; Ohashi, H; Kosho, T; Imai, Y; Hibi-Ko, Y; Kaname, T; Naritomi, K; Kawame, H; Wakui, K; Fukushima, Y; Homma, T; Kato, M; Hiraki, Y; Yamagata, T; Yano, S; Mizuno, S; Sakazume, S; Ishii, T; Nagai, T; Shiina, M; Ogata, K; Ohta, T; Niikawa, N; Miyatake, S; Okada, I; Mizuguchi, T; Doi, H; Saitsu, H et al. (2012). "Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome". Nature Genetics 44 (4): 376–8. doi:10.1038/ng.2219. PMID 22426308.  edit
  10. ^ a b c CV at 10th INternational Workshop on Advanced Genomics