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Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms.
Endo, Wakaba; Ikemoto, Satoru; Togashi, Noriko; Miyabayashi, Takuya; Nakajima, Erika; Hamano, Shin-Ichiro; Shibuya, Moriei; Sato, Ryo; Takezawa, Yusuke; Okubo, Yukimune; Inui, Takehiko; Kato, Mitsuhiro; Sengoku, Toru; Ogata, Kazuhiro; Hamanaka, Kohei; Mizuguchi, Takeshi; Miyatake, Satoko; Nakashima, Mitsuko; Matsumoto, Naomichi; Haginoya, Kazuhiro.
Afiliação
  • Endo W; Department of Pediatric Neurology, Miyagi Children's Hospital Hospital, Sendai 989-3126, Japan.
  • Ikemoto S; Division of Neurology, Saitama Children's Medical Center, Saitama 330-8777, Japan.
  • Togashi N; Department of Pediatric Neurology, Miyagi Children's Hospital Hospital, Sendai 989-3126, Japan.
  • Miyabayashi T; Department of Pediatric Neurology, Miyagi Children's Hospital Hospital, Sendai 989-3126, Japan.
  • Nakajima E; Division of Neurology, Saitama Children's Medical Center, Saitama 330-8777, Japan.
  • Hamano SI; Division of Neurology, Saitama Children's Medical Center, Saitama 330-8777, Japan.
  • Shibuya M; Department of Pediatric Neurology, Miyagi Children's Hospital Hospital, Sendai 989-3126, Japan.
  • Sato R; Department of Pediatric Neurology, Miyagi Children's Hospital Hospital, Sendai 989-3126, Japan.
  • Takezawa Y; Department of Pediatric Neurology, Miyagi Children's Hospital Hospital, Sendai 989-3126, Japan.
  • Okubo Y; Department of Pediatric Neurology, Miyagi Children's Hospital Hospital, Sendai 989-3126, Japan.
  • Inui T; Department of Pediatric Neurology, Miyagi Children's Hospital Hospital, Sendai 989-3126, Japan.
  • Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo 152-8555, Japan.
  • Sengoku T; Department of Biochemistry, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Ogata K; Department of Biochemistry, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Hamanaka K; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama 236-0004, Japan.
  • Mizuguchi T; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama 236-0004, Japan.
  • Miyatake S; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama 236-0004, Japan.
  • Nakashima M; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama 236-0004, Japan; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.
  • Matsumoto N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama 236-0004, Japan.
  • Haginoya K; Department of Pediatric Neurology, Miyagi Children's Hospital Hospital, Sendai 989-3126, Japan. Electronic address: khaginoya@kha.biglobe.ne.jp.
Brain Dev ; 42(2): 199-204, 2020 Feb.
Article em En | MEDLINE | ID: mdl-31735425
ABSTRACT
We report the first three Japanese patients with missense variants in the GNB1 gene. Patients exhibited severe dyskinetic quadriplegia with cortical blindness and epileptic spasms, West syndrome (but with good outcomes), and hypotonic quadriplegia that later developed into spastic diplegia. Whole-exome sequencing revealed two recurrent GNB1 variants (p.Leu95Pro and p.Ile80Thr) and one novel variant (p.Ser74Leu). A recent investigation revealed large numbers of patients with GNB1 variants. Functional studies of such variants and genotype-phenotype correlation are required to enable future precision medicine.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Paralisia Cerebral / Subunidades beta da Proteína de Ligação ao GTP Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Asia Idioma: En Revista: Brain Dev Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Japão
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Paralisia Cerebral / Subunidades beta da Proteína de Ligação ao GTP Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Asia Idioma: En Revista: Brain Dev Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Japão