Naomichi Matsumoto

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Naomichi Matsumoto
Native name 松本 直通
Born (1961-08-03) August 3, 1961 (age 55)
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]

Matsumoto has been the editor-in-chief of the scientific journal Journal of Human Genetics since 2014.[10]

Biography[edit]

Matsumoto was born in Saga Prefecture, Japan, and completed his M.D. in 1986 from Kyushu University School of Medicine.[11] After residency in obstetrics and gynecology at Kyushu University Hospital, he worked as an obstetrician and gynecologist for several years.[11] 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 genetics in 1997 from the same institution, before becoming a postdoctoral fellow at the University of Chicago.[11] 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. 
  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 2230615Freely accessible. PMID 15235604. 
  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. 
  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 3032058Freely accessible. PMID 20493457. 
  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 3014372Freely accessible. PMID 21194678. 
  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 3155161Freely accessible. PMID 21835308. 
  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 3213392Freely accessible. PMID 22036171. 
  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. 
  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. 
  10. ^ Matsumoto, N. (2014). "A message from the new Editor-in-Chief". Journal of Human Genetics 59: 1.
  11. ^ a b c CV at 10th INternational Workshop on Advanced Genomics