Naomichi Matsumoto

Naomichi Matsumoto
松本 直通
Born (1961-08-03) August 3, 1961 (age 63)
Saga Prefecture, Japan
NationalityJapanese
Alma materNagasaki University
Kyushu University
Known forSotos syndrome
Marfan syndrome type II
Ohtahara syndrome
Coffin–Siris syndrome
Scientific career
FieldsMedical genetics
InstitutionsYokohama City University
University of Chicago
Nagasaki University
Doctoral advisorNorio Niikawa

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]

  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. S2CID 205357840.
  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.
  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. S2CID 1113528.
  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.
  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.
  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.
  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.
  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 (1): 86–90. doi:10.1016/j.ajhg.2011.11.016. PMC 3257897. PMID 22209246.
  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. S2CID 205345340.
  10. ^ Matsumoto, N. (2014). "A message from the new Editor-in-Chief". Journal of Human Genetics 59: 1.