Case report: Suspecting guanine nucleotide-binding protein beta 1 mutation in dyskinetic cerebral palsy is important

Han-Byeol Choi; Yoonju Na; Jiwon Lee; Jeehun Lee; Ja-Hyun Jang; Jong-Won Kim; Jeong-Yi Kwon

doi:10.3389/fped.2023.1204360

Case report: Suspecting guanine nucleotide-binding protein beta 1 mutation in dyskinetic cerebral palsy is important

Front Pediatr. 2023 Oct 13:11:1204360. doi: 10.3389/fped.2023.1204360. eCollection 2023.

Authors

Han-Byeol Choi¹, Yoonju Na¹, Jiwon Lee², Jeehun Lee², Ja-Hyun Jang³, Jong-Won Kim^{3

4}, Jeong-Yi Kwon^{1

4}

Affiliations

¹ Department of Physical and Rehabilitation Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
² Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
³ Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
⁴ Department of Health Science and Technology, Samsung Advanced Institute for Health Science and Technology, Sungkyunkwan University, Seoul, Republic of Korea.

Abstract

Herein, we describe the case of a 43-month-old girl who presented with clinical manifestations of dyskinetic cerebral palsy (CP), classified as the Gross Motor Function Classification System (GMFCS) V. The patient had no family history of neurological or perinatal disorders. Despite early rehabilitation, serial assessments using the Gross Motor Function Measure (GMFM) showed no significant improvements in gross motor function. Brain magnetic resonance imaging showed nonspecific findings that could not account for developmental delay or dystonia. Whole-genome sequencing identified a heterozygous NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) mutation in guanine nucleotide-binding protein beta 1 (GNB1) gene. Considering this case and previous studies, genetic testing for the etiology of dyskinetic CP is recommended for children without relevant or with nonspecific brain lesions.

Keywords: GNB1; case report; cerebral palsy; developmental delay; dystonia.

Publication types

Case Reports

Grants and funding

This work was performed as part of the Bio & Medical Technology Development Program of the National Research Foundation (NRF-2020M3E5D7085175) funded by the Ministry of Health and Welfare, Ministry of Science and ICT, Ministry of Trade Industry and Energy, Korea Disease Control and Prevention Agency (The National Project of Bio Big Data).