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遺伝グループは、染色体異常症、多発奇形症候群の診断と診療、遺伝相談を主に担当し、小児科各領域、臨床各科との連携をもって患者さんのフォローアップを行っています。外来は、教育センターに籍を移動した蒔田が担当しております。研究面では、CGHアレイを用いた新規診断法の開発に取り組んでいます。また、各疾患の自然歴の作成などAll Japanの研究ネットに参加しており、患者さんに還元できる内容の開拓を目指しています。大学での臨床遺伝外来は、基本的に木曜日に行っています。総合療育の観点と北海道の広さをカバーするためにサテライトの外来を設置しています。道立旭川療育センター（月2回）、道立紋別病院、富良野協会病院、遠軽厚生病院、稚内市立病院、網走厚生病院（3ヶ月に1回）おこなっています。
●スタッフ●
- 蒔田 芳男
日本小児科学会専門医、日本人類遺伝学会 臨床細胞遺伝学認定士、臨床細胞遺伝学指導士、日本人類遺伝学会・日本遺伝カウンセリング学会認定臨床遺伝専門医、指導医
●研究テーマ●
●取得した専門医研修施設●
- 日本人類遺伝学会・日本遺伝カウンセリング学会認定臨床遺伝専門医制度研修施設
●業 績●
- Y. Makita, G. Nishimura, S. Ikegawa, T. Ishii, Y. Ito, A. Okuno: Intrafamilial Phenotypic Variability in Engelmann Disease (ED): Are the Disease and Ribbing Disease the Same Entity? Am J Med Genet.91:153-156, 2000
- M. Ghadami, Y. Makita, K. Yoshida, Y. Fukushima, K. Wakui, S. Ikegawa, K. Yamada, S. Kondo, N. Niikawa, H. Tomita.: Genetic Mapping of the
Camurati-Engelmann Disease Locus to Chromosome 19q13.2-q13.3. Am J Hum Genet 66:143-147(2000)
- A. Kinoshita, T. Saito, H. Tomita, Y. Makita, K. Yoshida, M. Ghadami, K. Yamada, S. Kondo, S. Ikegawa, G. Nishimura, Y. Fukushima, T. Nakagomi, H. Saito, T. Sugimoto, M. Kamegaya, K. Hisa, J. C. Murray, N. Taniguchi, N. Niikawa and K. Yoshiura : Domain Specific Mutations in the Human Transforming Growth Factor Beta 1 Gene (TGFB1) Result in Camurati-Engelmann Disease. Nature Genetics 26:19-20(2000)
- R.Mitamura, K. Yano, N Suzuki, Y. Ito, Y Makita, A. Okuno: Diurnal rhythms of luteinizing hormone, follicle-stimulating hormone, testosterone, and estradiol serection before the onset of female puberty in short children J. Clin. Endocrinol. Metabol. 85:1074-1080(2000).
- T. Saito, A. Kinoshita, K Yoshiura, Y. Makita, K. Wakui, K. Honke, N. Niikawa, N Taniguchi: Domain specific mutation of TGF B1 latency-associated peptide cause Camurati-Engelmann disease due to the formation of a constitutively active form of TGF-B1 J Biol Chem 276:11469-11470(2001).
- T. Arima, R.A.Drewell, K.L.Armery, J.Inoue, Y.Makita, A.Hata, M.Oshimura, N.Wake, M.A.Surani.: A conseved imprinting control region at the HYMAI/ZAC domain is impricated in transient neonatal diabetes mellitus. Hum Mol Genet 10:1475-1484(2001)
- T. Inaoka, N. Shuke, J. Sato, Y. Ishikawa, K. Takahashi, T. Aburano, Y. Makita.: Scintigraphic evaluation of pamidronate and corticosteroid therapy in a patient with progressive diaphyseal dysplasia(Camurati-Engelmann disease). Clin Nuc Med 26:680-682(2001)
- T. Ishii, Y. Makita, A. Ogawa, S. Amamiya, M. Yamamoto, A. Miyamoto, J. Oki. The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome. Brain and Development 23:S161-S164(2001)
- G. Nishimura, H. Nishimura, Y. Tanaka, Y. Makita, S. Ikegawa, M. Ghadami, A. Kinoshita, N. Niikawa.: Camurati-Engelamnn disease type II: progressive diaphyseal dysplasia with striations of the bones. Am J Med Genet 107:5-11(2002)
- N. Kurotaki, K. Imaizumi, N. Harada, M. Masuno, T. Kondoh, T. Nagai, H. Ohashi, K. Narutomi, M. Tsukahara, Y. Makita, T. Sugimoto, T, Sonoda, T. Hasegawa, Y. Chinen, H. Tomita, A. Kinoshita, T. Mixuguchi, K. Yoshiura, T. Ohta, T. Kishino, Y. Fukushima, N. Niikawa, N. Matsumoto.: Haploinsufficiency of the NSD1 gene causes Sotos syndrome. Natute Genetics. 30:365-6(2002)
- Nakamura T, Saionji K, HiejimaY, Hirayama H, Tago K, Takano H, Tajiri M, Hayashi K, Kawabata M, Funamizu M, Makita Y, Hata A. : Methylenetetrahydrofolate reductase genotype, vitamin B12, and folate influence plasma homocysteine in hemodialysis patients. Am J Kidney Dis 39:1032-9(2002)
- Ohmori H, Makita Y, Funamizu M, Hirooka K, Hosoi T, Orimo H, Suzuki T, Ikari K, Nakajima T, Inoue I, Hata A. Linkage and association analyses of the osteoprotegerin gene locus with human osteoporosis. J Hum Genet. 47:400-6(2002)
- Ohmori H, Makita Y, Funamizu M, Chiba S, Ohtani K, Suzuki Y, Wakayama N, Hata A. Haplotype analysis of human collectin placent 1(hCL-P1)gene. J Hum Genet 48:82-5(2003).
- Nagai T, Matsumoto N, Kurotaki N, Harada N, Niikawa N, Ogata T, Imaizumi K, Kurosawa K, Kondoh T, Ohashi H, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Yokoyama T, Uetake K, Sakazume S, Fukushima Y, Naritomi K. Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions. J Med Genet. 40:285-9(2003).
- Igarashi S, Makita Y, Hikichi T, Mori F, Hanada K, Yoshida A. Association of keratoconus and Avellino corneal dystrophy. Br J Ophthalmol 87:367-8(2003)
- Kurotaki N, Harada N, Shimokawa O, Miyake N, Kawame H, Uetake K, Makita Y, Kondoh T, Ogata T, Hasegawa T, Nagai T, Ozaki T, Touyama M, Shenhav R, Ohashi H, Medne L, Shiihara T, Ohtsu S, Kato Z, Okamoto N, Nishimoto J, Lev D, Miyoshi Y, Ishikiriyama S, Sonoda T, Sakazume S, Fukushima Y, Kurosawa K, Cheng JF, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Fifty microdeletions among 112cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. Hum Mutat 22:378-87(2003).
- Nishimura G, Ikeda T, Nakashima E, Mabuchi A, Shimamoto K, Shimamoto T, Shimao Y, Nagai T, Yamaguchi T, Kosaki R, Ohashi H, Makita Y, Ikegawa S.
Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type. J Med Genet 2004; 41: 75-79
- Ohmori H, Ando Y, Makita Y, Onouchi Y, Nakajima T, Saraiva MJM, Terazaki H, Suhr O, Sobue G, Yamaizumi M, Munar-Ques N, Inoue I, Uchino
M, Hata A.: Common origin of the Val30Met mutation responsible for amyloidogenic transthyretin type familial amyloid polyneuropathy. J Med Genet
2004; 41:e51.
- Nakashima E, Mabuchi A, Makita Y, Masuno M, Ohashi H, Nishimura G, Ikegawa S.: Novel SBDS mutaions caused by gene conversion in Japanese patiens with Shwachman-Diamond syndrome. Hum Genet 2004; 114:345-348
- Kurotaki N, Shen JJ, Touyama M, Kondoh T, Visser R, Ozaki T, Nishimoto J, Shiihara T, Uetake K, Makita Y, Harada N, Raskin S, Brown CW, Hoglund P, Okamoto N, Lupski JR:Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency.Genetics in Medicine Genet Med. 2005 7:479-483.
- Udaka T, Samejima H, Kosaki R, Kurosawa K, Okamoto N, Mizuno S, Makita Y, Numabe H, Toral JF, Takahashi T, Kosaki K.: Comprehensive screening of
CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography.
Congenit Anom (Kyoto). 2005 45(4):125-31.
- Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Kurosawa K, Kawame H, Iwakoshi M, Kosho T, Fukushima Y, Makita Y,
Yokoyama Y, Yamagata T, Kato M, Hiraki Y, Nomura M, Yoshiura K, Kishino T, Ohta T, Mizuguchi T, Niikawa N, Matsumoto N. BAC array CGH reveals genomic aberrations in idiopathic mental retardation. Am J Med Genet A. 2006 140(3):205-11.
- Osaki M, Makita Y, Miura J, Abe N, Noguchi S, Miyamoto A. A Japanese boy with apparent Bohring-Opitz or "C-like" syndrome. Am J Med Genet A. 2006 140(8): 897-899.
- Takikawa K, Haga N, Maruyama T, Nakatomi A, Kondoh T, Makita Y, Hata A, Kawabata H, Ikegawa S. Spine and rib abnormalities and stature in spondylocostal dysostosis. Spine. 2006 (7):E192-7.
- Nakayama T, Kuroi N, Sano M, Tabara Y, Katsuya T, Ogihara T, Makita Y, Hata A, Yamada M, Takahashi N, Hirawa N, Umemura S, Miki T, Soma M. Mutation of the follicle-stimulating hormone receptor gene 5'-untranslated region associated with female hypertension. Hypertension. 2006 (3):512-8.
- Aramaki M, Udaka T, Kosaki R, Makita Y, Okamoto N, Yoshihashi H, Oki H, Nanao K, Moriyama N, Oku S, Hasegawa T, Tahahashi T, Fukushima Y, Kawame H, Kosaki K. Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. J Pediatr 2006 148:410-414
- Hayashi S, Honda S, Minaguchi M, Makita Y, Okamoto N, Kosaki R, Okuyama T, Imoto I, Mizutani S, Inazawa J. Construction of a High-density and High-resolution Human Chromosome X Array for Comparative Genomic Hybridization Analysis. J Hum Genet 2007 52:397-405.
- Narumi Y, Aoki Y, Niihori T, Neri G, Cave H, Verloes A, Nava C, Kavamura MI, Okamoto N, Kurosawa K, Hennekam RC, Wilson LC, Gillessen-Kaesbach G,
Wieczorek D, Lapunzina P, Ohashi H, Makita Y, Kondo I, Tsuchiya S, Ito E, Sameshima K, Kato K, Kure S, Matsubara Y.: Molecular and clinical characterization of cardio -facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. Am J Med Genet A. 2007 143:799-807.
- Nakamura S, Makita Y, Takagi A, Takahsshi H, Ishida-Yamamoto A, Iizuka H. Hutchinson-Gilford progeria syndrome with severe skin calcinosis. Clin Exp Dermatol. 2007 Apr 2
- Makita Y, Narumi Y, Yoshida M, Niihori T, Kure S, Fujieda K, Matsubara Y, Aoki Y. Leukemia in Cardio-facio-cutaneous (CFC) Syndrome: A Patient With a Germline Mutation in BRAF Proto-oncogene. J Pediatr Hematol Oncol. 2007 29:287-290.
- Hayashi S, Ono M, Makita Y, Imoto I, Mizutani S, Inazawa J. : Fortuitous Detection of a Submicroscopic Deletion at 1q25 in a Girl With Cornelia-de Lange Syndrome Carrying t(5;13)(p13.1;q12.1) by Array-based Comparative Genomic Hybridization. Am J Med Genet 2007 143(11):1191-7.
- Suzuki S, Makita Y, Mukai T, Matsuo K, Ueda O, Fujieda K. Molecular basis of neonatal diabetes in Japanese patients. J Clin Endocrinol Metab. 92:3979-85 2007.
- Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Owan I, Kanaya F, Kubota Y, Oike Y, Yamamoto T, Kurosawa K, Fukushima Y, Bohring A,
Opitz JM, Yoshiura K, Niikawa N, Naritomi K.: Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. Am J Hum Genet. 81:835-41 2007.
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