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Phenotypes of GNAO1 Variants in a Chinese Cohort
This study aimed to analyze the genotypes and phenotypes of GNAO1 variants in a Chinese cohort. Seven male and four female patients with GNAO1 variants were enrolled, including siblings of brothers. Ten different GNAO1 variants (nine missense and one splicing site) were identified, among which six w...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8193119/ https://www.ncbi.nlm.nih.gov/pubmed/34122306 http://dx.doi.org/10.3389/fneur.2021.662162 |
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author | Yang, Xiaoling Niu, Xueyang Yang, Ying Cheng, Miaomiao Zhang, Jing Chen, Jiaoyang Yang, Zhixian Zhang, Yuehua |
author_facet | Yang, Xiaoling Niu, Xueyang Yang, Ying Cheng, Miaomiao Zhang, Jing Chen, Jiaoyang Yang, Zhixian Zhang, Yuehua |
author_sort | Yang, Xiaoling |
collection | PubMed |
description | This study aimed to analyze the genotypes and phenotypes of GNAO1 variants in a Chinese cohort. Seven male and four female patients with GNAO1 variants were enrolled, including siblings of brothers. Ten different GNAO1 variants (nine missense and one splicing site) were identified, among which six were novel. All the variants were confirmed to be de novo in peripheral blood DNA. Eight (73%, 8/11) patients had epilepsy; the seizure onset age ranged from 6 h after birth to 4 months (median age, 2.5 months). Focal seizures were observed in all eight patients, epileptic spasms occurred in six (75%, 6/8), tonic spasm in four (50%, 4/8), tonic seizures in two, atypical absence in one, and generalized tonic–clonic seizures in one. Seven patients had multiple seizure types. Eight (73%, 8/11) patients had movement disorders, seven of them having only dystonia, and one having dystonia with choreoathetosis. Varying degrees of developmental delay (DD) were present in all 11 patients. The phenotypes were diagnosed as early infantile epileptic encephalopathy (EIEE) in two (18%) patients, which were further diagnosed as West syndrome. Movement disorders (MD) with developmental delay were diagnosed in two (18%) brothers. EIEE and MD were overlapped in six (55%) patients, among which two were diagnosed with West syndrome, one with Ohtahara syndrome, and the other three with non-specific EIEE. One (9%) patient was diagnosed as DD alone. The onset age of GNAO1-related disorders was early infancy. The phenotypic spectrum of GNAO1 included EIEE, MD with DD, and DD alone. |
format | Online Article Text |
id | pubmed-8193119 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-81931192021-06-12 Phenotypes of GNAO1 Variants in a Chinese Cohort Yang, Xiaoling Niu, Xueyang Yang, Ying Cheng, Miaomiao Zhang, Jing Chen, Jiaoyang Yang, Zhixian Zhang, Yuehua Front Neurol Neurology This study aimed to analyze the genotypes and phenotypes of GNAO1 variants in a Chinese cohort. Seven male and four female patients with GNAO1 variants were enrolled, including siblings of brothers. Ten different GNAO1 variants (nine missense and one splicing site) were identified, among which six were novel. All the variants were confirmed to be de novo in peripheral blood DNA. Eight (73%, 8/11) patients had epilepsy; the seizure onset age ranged from 6 h after birth to 4 months (median age, 2.5 months). Focal seizures were observed in all eight patients, epileptic spasms occurred in six (75%, 6/8), tonic spasm in four (50%, 4/8), tonic seizures in two, atypical absence in one, and generalized tonic–clonic seizures in one. Seven patients had multiple seizure types. Eight (73%, 8/11) patients had movement disorders, seven of them having only dystonia, and one having dystonia with choreoathetosis. Varying degrees of developmental delay (DD) were present in all 11 patients. The phenotypes were diagnosed as early infantile epileptic encephalopathy (EIEE) in two (18%) patients, which were further diagnosed as West syndrome. Movement disorders (MD) with developmental delay were diagnosed in two (18%) brothers. EIEE and MD were overlapped in six (55%) patients, among which two were diagnosed with West syndrome, one with Ohtahara syndrome, and the other three with non-specific EIEE. One (9%) patient was diagnosed as DD alone. The onset age of GNAO1-related disorders was early infancy. The phenotypic spectrum of GNAO1 included EIEE, MD with DD, and DD alone. Frontiers Media S.A. 2021-05-28 /pmc/articles/PMC8193119/ /pubmed/34122306 http://dx.doi.org/10.3389/fneur.2021.662162 Text en Copyright © 2021 Yang, Niu, Yang, Cheng, Zhang, Chen, Yang and Zhang. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Neurology Yang, Xiaoling Niu, Xueyang Yang, Ying Cheng, Miaomiao Zhang, Jing Chen, Jiaoyang Yang, Zhixian Zhang, Yuehua Phenotypes of GNAO1 Variants in a Chinese Cohort |
title | Phenotypes of GNAO1 Variants in a Chinese Cohort |
title_full | Phenotypes of GNAO1 Variants in a Chinese Cohort |
title_fullStr | Phenotypes of GNAO1 Variants in a Chinese Cohort |
title_full_unstemmed | Phenotypes of GNAO1 Variants in a Chinese Cohort |
title_short | Phenotypes of GNAO1 Variants in a Chinese Cohort |
title_sort | phenotypes of gnao1 variants in a chinese cohort |
topic | Neurology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8193119/ https://www.ncbi.nlm.nih.gov/pubmed/34122306 http://dx.doi.org/10.3389/fneur.2021.662162 |
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