Case Report
A Rare Case of Movement Disorder with Developmental Delay [Clinical Phenotype of de novo Gnao1 mutation]: Case Report and Review of Literature
Satish S*, Robert Wilson, Arunan S and Kalpana
Department of Neurology, SRM Medical College and Research Center, SRM Nagar, Potheri, Chengalpattu, Tamilnadu, India
*Corresponding author: Shanmugasundaram Satish, Department of Neurology, SRM Medical College and Research
Center, SRM Nagar, Potheri, Chengalpattu, Tamilnadu, India; Phone +91 8056353093; E-mail: sundaramk60@gmail.com
Article Information: Submission: 08/03/2022; Accepted: 09/04/2022; Published: 11/04/2022
Copyright: © 2022 Satish S, et al. This is an open access article distributed under the Creative Commons Attribution
License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is
properly cited.
Abstract
Mutations in GNAO1 (guanine nucleotide-binding protein, alpha-activating activity polypeptide O) were recently identified as being causative for early
epileptic encephalopathy. Since then approximately 27 patients with severe developmental delay and different neurological phenotypes for epilepsy and
involuntary movement disorder have been reported. Here we report a 7 year old female with mutations in GNAO1 harboring the de novo mutation (c.736G >
A, p.Glu246Lys) but showing differences in phenotype with pronounced hyperkinetic movements and global developmental delay. The mutation was found
using a targeted next generation sequencing gene panel and demonstrates targeted sequencing as a powerful tool for identifying mutations in genes where
only a few de novo mutations have been identified.