NAOMICHI MATSUMOTO

TITLE: Professor, Department of Human Genetics, Yokohama City University Graduate School of Medicine
PRESENT ADDRESS: Shiomidai 3-7-1-A504, Isogo-ku, Yokohama 235-0022, Japan
DATE OF BIRTH: August 3, 1961
PLACE OF BIRTH: Saga, Japan
NATIONALITY: Japanese
MARRIED: 1990 to Ako Komatsubara, and have two children
EDUCATION: Kyushu University School of Medicine, M.D., 1986
Graduate School of Medical Science, Nagasaki University School of Medicine, Ph.D., 1997
CERTIFICATION: National Board for Practitioner, 1986
Japanese Board of Obstetrics & Gynecology, Obstetrician & Gynecologist, 1992
Japanese Board of Human Genetics, Medical Geneticist, 1995
ACADEMIC AND PROFESSIONAL EXPERIENCE:
1986-1987 Resident at Department of Obstetrics & Gynecology, Kyushu University Hospital
1987-1988 Obstetrician & Gynecologist in Matsuyama Red Cross Hospital
1988-1989 Obstetrician & Gynecologist in National Nakatsu Hospital
1989-1990 Obstetrician & Gynecologist in Kyushu University Hospital
1990-1992 Obstetrician & Gynecologist in National Fukuoka Central Hospital
1992-1992 Instructor, Department of Obstetrics & Gynecology, Kyushu University School of Medicine
1993-1993 Obstetrician & Gynecologist in Shimonoseki Municipal Hospital
1993-1997 Graduate School of Nagasaki University, Department of Human Genetics
1996-1997 Research Assistant at Department of Human Genetics, Nagasaki University School of Medicine
1997-1998 Post Doctoral Fellow at Department of Human Genetics, The University of
Chicago
1998-2000 Research associate at Department of Human Genetics, The University of Chicago
2000-2003 Associate professor at Department of Human Genetics, Nagasaki University School of Medicine
2001-present Visiting lecturer at Shinshu University School of Medicine
2001-2003 Visiting lecturer at Kurume University School of Medicine
2003-present Professor at Department of Human Genetics, Yokohama City University Graduate
School of Medicine
2004-present Visiting lecturer at Nagasaki University School of Medicine
2004-2005 Visiting lecturer at Kobe University School of Medicine
2004-2009 Visiting lecturer at Yokohama National University Graduate School of Environment and Information Sciences
2006-2006 Visiting lecturer at Hiroshima University School of Medicine
2007-2012 Guest Professor at Central South University, Changsha Hunan, China
2011-2012 Visiting lecturer at Tokyo University Graduate School of Medicine

SOCIETY MEMBERSHIP:
Member of Japan Society of Human Genetics (Councilor 2003-) (Director 2011-)
Member of Japanese Society of Obstetrics & Gynecology (1986-2006)

Editorial Board
Clinical Genetics (Blackwell Publishing, UK) (2005-)
Asian Biomedicine (Research, Review and News) (2006-)
J Hum Genet (2007-) (Associate Editor 2011-)
Acta Medica Nagasakiensia (2007-)
Am J Med Genet Part A (2008-)
Bandung Medical Journal (2009-)
Journal of Geriatric Cardiology (2010-2012)
Chinese Journal of Multiple Organ Diseases in the Elderly (2010-)
Case Reports in Genetics (2011-2011)
Recent Patents on DNA & Gene Sequences (2007-2010)
Current Genetic Medicine Reports (2012-)
PeerJ (2012-)

Award/Prize
1997 Research Fellowship of Uehara Memorial Life Science Fund
2003 Japan Society of Human Genetics Award for Young Scientist (The Genetics of Sotos Syndrome)
2004 Research Promotion Fund from Takeda Science Foundation
2005 Research Fund from Uehara Memorial Foundation
2005 The research grant in the natural sciences from the Mitsubishi Foundation
2007 Priority Research Grant by Takeda science foundation
2008 Research fund from Naito Foundation
2009 Pediatric Medical Research Fund from Mother and Child Health Foundation
2010 The Chairman Award of Yokohama City University
2011 Japan Society of Human Genetics Award
2011 Life Science Grant from Takeda science foundation

RESEARCH INTERESTS:
Molecular genetics and molecular cytogenetics
Mendelian diseases
Positional cloning
Complex genome
Congental anomal
Sotos syndrome
Marfan syndrome
Epilepsy
Microarray
Next generation sequencing

Selected papers

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, *Miyake N, *Matsumoto N (*: co-corresponding). Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet 44(4):376-378, 2012
Yoneda Y, Haginoya K, Arai H, Tsurusaki Y, Doi H, Miyake N, Osaka H, Kato M, Matsumoto N, *Saitsu H. De novo and inherited mutations in the gene encoding a type IV collagen α2 chain (COL4A2) cause porencephaly. Am J Hum Genet 90 (1):86-90, 2012
*Saitsu H, Osaka H, Sasaki M, Takanashi J, Hamada K, Yamashita A, Shiina M, Kondo Y, Nishiyama K, Tsurusaki Y, Miyake N, Doi H, Ogata K, Inoue K, *Matsumoto N. Mutations in POLR3A and POLR3B encoding RNA polymerase III subunits cause an autosomal recessive hypomyelinating leukoencephalopathy. Am J Hum Genet 90 (1):86-90, 2011.
Doi H, Yoshida K, T Yasuda, Fukuda M, Fukuda Y, Morita H, Ikeda S-i, Kato R, Tsurusaki Y, Miyake N, Saitsu H, Sakai H, Miyatake S, Shiina M, Nukina N, Koyano S, Tsuji S, Kuroiwa Y, *Matsumoto N. Exome sequencing reveals a homozygous SYT14 mutation in adult-onset autosomal recessive spinocerebellar ataxia with psychomotor retardation. Am J Hum Genet 89(2):320-327, 2011.
Okada I#, Hamanoue H#, (# denotes equal contribution) 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, Kiyomi Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K-i, Tsurusaki Y, Doi H, Miyake N, Furukawa T, Matsumoto N, Saitsu H. SMOC1 is essential for ocular and limb development in humans and mice. Am J Hum Genet 88(1): 30-41, 2011
Ng S, Bigham A, Buckingham K, Hannibal M, McMillin M, Gildersleeve H, Beck A,　Tabor H, Cooper G, Mefford H, Lee C, Turner E, Smith J, Rieder M, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson D, *Bamshad M, *Shendure J. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 42(9): 790-793, 2010.
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. Dominant negative mutations in α-II spectrin cause early onset West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. Am J Hum Genet 86(6):881-889, 2010.
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-i, Kumada T, Hayasaka K, Fukuda A, Ogata K, Matsumoto N. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet 40(6): 782-788, 2008
Niihori T, Aoki Y, Narumi Y, Neri G, Cavé H, Alain Verloes A, Okamoto N, Hennekam RCM, Gillessen-Kaesbach G, Wieczorek D, Kavamura MI, Kurosawa K, Ohashi H, Wilson L, Heron D, Bonneau D, Corona G, Kaname T, Naritomi K, Baumann C, Matsumoto N, Kato K, Kure S, Matsubara Y. Germline KRAS and BRAF mutations in cardio-facio-cutaneous (CFC) syndrome. Nat Genet 38(3): 294-296, 2006
Visser R, Shimokawa O, Harada N, Kinoshita A, Ohta T, Niikawa N, Matsumoto N. Identification of a 3.0-kb major recombination hotspot in Sotos syndrome patients with a common 1.9-Mb microdeletion. Am J Hum Genet 76(1):52-67, 2005
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-i, Junien C, Kajii T, Jondeau G, Ohta T, Kishino T, Furukawa Y, Nakamura Y, Niikawa N, Boileau C, Matsumoto N. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet 36(8): 855-860, 2004
Yamada K, Andrews C, Chan W-M, McKeown CA, Magli A, de Berardinis T, Loewenstein A, Lazar M, O’Keefe M, Letson R, London A, Ruttum M, Matsumoto N, Saito N, Lisa Morris, Del Monte M, Johnson RH, Uyama E, Houtman WA, de Vries B, Carlow TJ, Blaine L Hart BL, Krawiecki N, Shoffner J, Vogel MC, Katowitz J, Goldstein SM, Levin AV, Sener EC, Ozturk BT, Akarsu AN, Brodsky MC, Hanisch F, Cruse RP, Zubcov AA, Robb RM, Roggenkäemper P, Gottlob I, Kowal L, Battu R, Traboulsi BI, Franceschini P, Newlin A, Demer JL, Engle EC. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet 35 (4): 318-321, 2003
Miyake N, Kurotaki N, Sugawara H, Shimokawa O, Harada N, Kondoh T, Tsukahara T, Ishikiriyama S, Sonoda T, Miyoshi Y, Sakazume S, Fukushima Y, Ohashi H, Nagai T, Kawame H, Kurosawa K, Touyama M, Shiihara T, Okamoto N, Nishimoto J, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Preferential paternal origin of microdeletion caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome. Am J Hum Genet 2(5):1331-1337, 2003
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 H-A, Kinoshita A, Mizuguchi T, Yoshiura K-I, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N. Haploinsufficiency of the NSD1 gene causes Sotos syndrome. Nat Genet 30 (4): 365-366, 2002