[O27] Oral Presentation
case report

Sat. Jun 17, 2017 10:40 AM - 11:50 AM Room No.6 (10F Conference Room 1009)

Chair:Reiko Arakawa(Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan), Yukiko Kuroda( Department of Pediatrics, University of Tokyo, Tokyo, Japan)

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[O-156] The clinical study of DRPLA families in our hospital

^○Atsushi Imamura, Kuniko Tokoro, Emiko Kobayashi, Miyuki Hoshi (Department of Pediatrics, Gifu Prefectural General Medical Center,Gifu, Japan)

[O-157] 3 Japanese CMT families with the mitofusin 2 (MFN2) mutations

^○Shinobu Fukumura¹, Shinobu Fukumura¹, Akiyo Yamamoto¹, Kentaro Kawamura¹, Hiroyuki Tsutsumi¹, Akiko Tsuduki², Kouki Nikaido³, Akiko Yoshimura⁴, Akihiro Hashiguchi⁴, Hiroshi Takashima⁴ (1.The Department of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, Japan, 2.The Department of Rehabilitation, Hokkaido Medical Center for Child Health and Rehabilitation, Sapporo, Japan, 3.The Department of Child Neurology, Hokkaido Medical Center for Child Health and Rehabilitation, Sapporo, Japan, 4.The Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan)

[O-158] A case with novel complex heterozygous mutation within PCDH12 gene.

^○Sato Suzuki-muromoto¹, Takuya Miyabayashi¹, Yusuke Takezawa², Yukimune Ookubo¹, Wakaba Endou¹, Takehiko Inui¹, Keisuke Wakusawa¹, Noriko Togashi¹, Kazuhiro Haginoya¹, Mitsuko Nakashima³, Hirotomo Saitsu⁴, Naomichi Matsumoto³ (1.Department of Pediatric Neurology, Miyagi Childrens Hospital, Sendai, Japan, 2.Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan, 3.Department of Human Genetics, Yokohama City University,Yokohama, Japan, 4.Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan)

[O-159] An infant case with diffuse cerebrospinal lesion and cardiomyopathy caused by BOLA3 gene mutation

^○Makoto Nishioka¹, Yuji Inaba¹, Mitsuho Takatsuki¹, Mitsuo Motobayashi¹, Kei Murayama², Akira Ohtake³ (1.Department of Pediatrics, University of Shinshu, Nagano, Japan, 2.Chiba Children's Hospital, Chiba, Japan, 3.Department of Pediatrics, University of Saitama Medical, Nagano, Japan)

[O-160] A novel missense mutation in a patient with Larsen syndrome

^○Tomohiro Fujii, Tomoko Kirino, Yumi Fujihara, Shigehiro Nagai, Shoichi Endo (Department of Pediatric Neurology, NHO Shikoku Medical Center for Children and Adults, Kagawa, Japan)

[O-161] A patient with uniparental disomy of chromosome 1 with symptoms similar to 1p36 deletion syndrome

^○Naoko Taniguchi¹, Hideki Shimomura¹, Kyoko Minagawa¹, Tomoko Tamaoki², Yasuhiro Takeshima¹ (1.Department of Pediatrics, Hyogo College of Medicine, Nishinomiya, Japan, 2.Department of Clinical Genetics, Hyogo College of Medicine, Nishinomiya, Japan)

[O-162] Long-term survival female case with thanatopholic dysplasia type1

^○Noriko Mishima, Misako Suzuki, Norikazu Shimizu (Department of Pediatrics Toho University Ohashi medical center, Tokyo, Japan)