論文

査読有り 国際誌
2020年2月

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.

Brain & development
  • Wakaba Endo
  • ,
  • Satoru Ikemoto
  • ,
  • Noriko Togashi
  • ,
  • Takuya Miyabayashi
  • ,
  • Erika Nakajima
  • ,
  • Shin-Ichiro Hamano
  • ,
  • Moriei Shibuya
  • ,
  • Ryo Sato
  • ,
  • Yusuke Takezawa
  • ,
  • Yukimune Okubo
  • ,
  • Takehiko Inui
  • ,
  • Mitsuhiro Kato
  • ,
  • Toru Sengoku
  • ,
  • Kazuhiro Ogata
  • ,
  • Kohei Hamanaka
  • ,
  • Takeshi Mizuguchi
  • ,
  • Satoko Miyatake
  • ,
  • Mitsuko Nakashima
  • ,
  • Naomichi Matsumoto
  • ,
  • Kazuhiro Haginoya

42
2
開始ページ
199
終了ページ
204
記述言語
英語
掲載種別
DOI
10.1016/j.braindev.2019.10.006

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.

リンク情報
DOI
https://doi.org/10.1016/j.braindev.2019.10.006
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/31735425
ID情報
  • DOI : 10.1016/j.braindev.2019.10.006
  • PubMed ID : 31735425

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