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

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

doi:10.1016/j.braindev.2019.10.006

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

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

Research output: Contribution to journal › Article › peer-review

12 Citations (Scopus)

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.

Original language	English
Pages (from-to)	199-204
Number of pages	6
Journal	Brain and Development
Volume	42
Issue number	2
DOIs	https://doi.org/10.1016/j.braindev.2019.10.006
Publication status	Published - 2020 Feb
Externally published	Yes

Keywords

Epileptic and developmental encephalopathy
GNB1
Hereditary spastic paraplegia
Hypotonic cerebral palsy
Infantile spasms

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Developmental Neuroscience
Clinical Neurology

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10.1016/j.braindev.2019.10.006

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Endo, W., Ikemoto, S., Togashi, N., Miyabayashi, T., Nakajima, E., Hamano, S. I., Shibuya, M., Sato, R., Takezawa, Y., Okubo, Y., Inui, T., Kato, M., Sengoku, T., Ogata, K., Hamanaka, K., Mizuguchi, T., Miyatake, S., Nakashima, M., Matsumoto, N., & Haginoya, K. (2020). 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 and Development, 42(2), 199-204. https://doi.org/10.1016/j.braindev.2019.10.006

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 et al.
In: Brain and Development, Vol. 42, No. 2, 02.2020, p. 199-204.

Research output: Contribution to journal › Article › peer-review

Endo, W, Ikemoto, S, Togashi, N, Miyabayashi, T, Nakajima, E, Hamano, SI, Shibuya, M, Sato, R, Takezawa, Y, Okubo, Y, Inui, T, Kato, M, Sengoku, T, Ogata, K, Hamanaka, K, Mizuguchi, T, Miyatake, S, Nakashima, M, Matsumoto, N & Haginoya, K 2020, '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 and Development, vol. 42, no. 2, pp. 199-204. https://doi.org/10.1016/j.braindev.2019.10.006

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title = "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",

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.",

keywords = "Epileptic and developmental encephalopathy, GNB1, Hereditary spastic paraplegia, Hypotonic cerebral palsy, Infantile spasms",

author = "Wakaba Endo and Satoru Ikemoto and Noriko Togashi and Takuya Miyabayashi and Erika Nakajima and Hamano, {Shin ichiro} and Moriei Shibuya and Ryo Sato and Yusuke Takezawa and Yukimune Okubo and Takehiko Inui and Mitsuhiro Kato and Toru Sengoku and Kazuhiro Ogata and Kohei Hamanaka and Takeshi Mizuguchi and Satoko Miyatake and Mitsuko Nakashima and Naomichi Matsumoto and Kazuhiro Haginoya",

note = "Funding Information: We thank the individual and the individual's family for their participation in this study. This work was supported by Japan Agency for Medical Research and Development (AMED) under grant numbers JP19ek0109280, JP19dm0107090, JP19ek0109301, JP19ek0109348, and JP19kk0205012; by JSPS KAKENHI under grant numbers JP17H01539, JP19H03621 and 17K15630; the Ministry of Health, Labor, and Welfare; and Takeda Science Foundation. Funding Information: We thank the individual and the individual{\textquoteright}s family for their participation in this study. This work was supported by Japan Agency for Medical Research and Development ( AMED ) under grant numbers JP19ek0109280 , JP19dm0107090 , JP19ek0109301 , JP19ek0109348 , and JP19kk0205012 ; by JSPS KAKENHI under grant numbers JP17H01539, JP19H03621 and 17K15630; the Ministry of Health, Labor, and Welfare; and Takeda Science Foundation. Appendix A Publisher Copyright: {\textcopyright} 2019 The Japanese Society of Child Neurology",

year = "2020",

month = feb,

doi = "10.1016/j.braindev.2019.10.006",

language = "English",

volume = "42",

pages = "199--204",

journal = "Brain and Development",

issn = "0387-7604",

publisher = "Elsevier",

number = "2",

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T1 - 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

AU - Endo, Wakaba

AU - Ikemoto, Satoru

AU - Togashi, Noriko

AU - Miyabayashi, Takuya

AU - Nakajima, Erika

AU - Hamano, Shin ichiro

AU - Shibuya, Moriei

AU - Sato, Ryo

AU - Takezawa, Yusuke

AU - Okubo, Yukimune

AU - Inui, Takehiko

AU - Kato, Mitsuhiro

AU - Sengoku, Toru

AU - Ogata, Kazuhiro

AU - Hamanaka, Kohei

AU - Mizuguchi, Takeshi

AU - Miyatake, Satoko

AU - Nakashima, Mitsuko

AU - Matsumoto, Naomichi

AU - Haginoya, Kazuhiro

N1 - Funding Information: We thank the individual and the individual's family for their participation in this study. This work was supported by Japan Agency for Medical Research and Development (AMED) under grant numbers JP19ek0109280, JP19dm0107090, JP19ek0109301, JP19ek0109348, and JP19kk0205012; by JSPS KAKENHI under grant numbers JP17H01539, JP19H03621 and 17K15630; the Ministry of Health, Labor, and Welfare; and Takeda Science Foundation. Funding Information: We thank the individual and the individual’s family for their participation in this study. This work was supported by Japan Agency for Medical Research and Development ( AMED ) under grant numbers JP19ek0109280 , JP19dm0107090 , JP19ek0109301 , JP19ek0109348 , and JP19kk0205012 ; by JSPS KAKENHI under grant numbers JP17H01539, JP19H03621 and 17K15630; the Ministry of Health, Labor, and Welfare; and Takeda Science Foundation. Appendix A Publisher Copyright: © 2019 The Japanese Society of Child Neurology

PY - 2020/2

Y1 - 2020/2

N2 - 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.

AB - 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.

KW - Epileptic and developmental encephalopathy

KW - GNB1

KW - Hereditary spastic paraplegia

KW - Hypotonic cerebral palsy

KW - Infantile spasms

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JF - Brain and Development

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ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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