[P10] Gene abnormality

Thu. May 31, 2018 5:10 PM - 5:40 PM Poster (Convention Hall A)

Chair:Yasuhiko Kawakami(Department of Pediatrics, Nippon Medical School Musashi Kosugi Hospital)

+Add all to schedule

[P-058] DYNC1H1 novel mutation: a case presenting with cortical dysplasia, epilepsy and microcephaly

Tatsuyuki Sokoda¹, TAKAO MORIMUNE¹, JUN MATSUI¹, NORIKO NISHIKURA¹, MITSUHIRO KATO², SATOKO MIYATAKE³, NAOMICHI MATSUMOTO³ (1.Department of Pediatrics, Shiga University of Medical Science, Shiga, Japan, 2.Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan, 3.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanagawa, Japan)

[P-059] A case of cortical dysplasia and microcephaly with a TUBG1 mutation

Mika Kawabe¹, Mitsumasa Fukuda³, Tomoko Hamada², Hiroyuki Wakamoto¹, Eiichi Ishii², Shiro Ozasa⁴, Mitsuhiro Kato⁵ (1.Department of Pediatrics,Ehime Rehabilitation Center for Children,Toon,Ehime,Japan, 2.Department of Pediatrics,Ehime University Graduate School of Medicine,Toon,Ehime,Japan, 3.Department of Pediatrics,Ehime Prefectural Niihama Hospital,Niihama,Ehime,Japan, 4.Department of Pediatrics,Kumamoto University,Kumamoto,Japan)

[P-060] De novo CCND2 mutation causes megalencephaly—polymicrogyria—polydactyly—hydrocephalus syndrome

Ryo Sato¹, Takuya Miyabayashi¹, Yukimune Okubo¹, Takehiko Inui¹, Noriko Togashi¹, Satoko Miyatake², Naomichi Matsumoto², Kazuhiro Hagonoya¹ (1.Department of neurology, Miyagi Children's Hospital, Sendai, Japan, 2.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan)

[P-061] A case with mucolipidosis complicated with cerebral dysplasia and cerebral infarction

Koji Morita¹, KENTARO HANAOKA¹, KOZUE KOBAYASHI², AKIRA HOJO², MITSUHIRO KATO², KATSUMI MIZUNO¹, MASARU TATSUNO², SATOKO MIYATAKE³, NAOMICHI MATSUMOTO³ (1.Department of Pediatrics, Showa University School Koutou Toyosu Hospital, Tokyo, Japan, 2.Department of Pediatrics, Showa University School, Tokyo, Japan, 3.Graduate School of Genetics, Yokohama City University School of Medicine, Knagawa, Japan)

[P-062] A case of MEHMO syndrome with leukodystrophy and diabetes

Mioko Mori¹ (1.Shiga Medical Center for Children,Shiga,Japan, 2.Center for Medical Genetics,Keio University School of MedicineTokyo,Japan, 3.Department of Pediatrics,Shiga University of Medical Science Hospital,Shiga,Japan)

[P-063] A case of Leukoencephalopathy with calcifications and cysts caused by mutations in SNORD118

Kazuo Kodama¹, TAKU OMATA¹, YOSHIMI WATANABE¹, HIROMI AOYAMA¹, JUN-ICHI TAKANASHI², KAZUHIRO IWAMA³, TAKESHI MIZUGUCHI³, NAOMICHI MATSUMOTO³ (1.Division of Child Neurology, Chiba Children's Hospital, Chiba, Japan, 2.Tokyo Women's Medical University, Yachiyo Medical Center,Yachiyo, Japan, 3.Department of Human Genetics Yokohama City University Graduate School of Medicine, Yokohama, Japan)