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

Volume: 42
Number: 2
First page: 199
Last page: 204
Language: English
Publishing type
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.

Link information

DOI: https://doi.org/10.1016/j.braindev.2019.10.006
PubMed: https://www.ncbi.nlm.nih.gov/pubmed/31735425

ID information

DOI : 10.1016/j.braindev.2019.10.006
Pubmed ID : 31735425

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Toru Sengoku

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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.

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