Clinical and Molecular Profiling in GNAO1 Permits Phenotype–Genotype Correlation
Article Swipe
Amaia Lasa‐Aranzasti
,
Yonika Arum Larasati
,
Juliana da Silva Cardoso
,
Gonzalo P. Solis
,
Alexey Koval
,
Ana Cazurro‐Gutiérrez
,
Juan Darío Ortigoza‐Escobar
,
Maria Concepción Miranda
,
Beatriz De la Casa‐Fages
,
Antonio Moreno
,
Eduardo F. Tizzano
,
David Gómez‐Andrés
,
Edgard Verdura
,
Vladimir L. Katanaev
,
Belén Pérez‐Dueñas
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1002/mds.29881
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1002/mds.29881
Background Defects in GNAO1 , the gene encoding the major neuronal G‐protein Gαo, are related to neurodevelopmental disorders, epilepsy, and movement disorders. Nevertheless, there is a poor understanding of how molecular mechanisms explain the different phenotypes. Objectives We aimed to analyze the clinical phenotype and the molecular characterization of GNAO1 ‐related disorders. Methods Patients were recruited in collaboration with the Spanish GNAO1 Association. For patient phenotyping, direct clinical evaluation, analysis of homemade‐videos, and an online questionnaire completed by families were analyzed. We studied Gαo cellular expression, the interactions of the partner proteins, and binding to guanosine triphosphate (GTP) and G‐protein‐coupled receptors (GPCRs). Results Eighteen patients with GNAO1 genetic defects had a complex neurodevelopmental disorder, epilepsy, central hypotonia, and movement disorders. Eleven patients showed neurological deterioration, recurrent hyperkinetic crisis with partial recovery, and secondary complications leading to death in three cases. Deep brain stimulation improved hyperkinetic crisis, but had inconsistent benefits in dystonia. The molecular defects caused by pathogenic Gαo were aberrant GTP binding and hydrolysis activities, an inability to interact with cellular binding partners, and reduced coupling to GPCRs. Decreased localization of Gαo in the plasma membrane was correlated with the phenotype of “developmental and epileptic encephalopathy 17.” We observed a genotype–phenotype correlation, pathogenic variants in position 203 were related to developmental and epileptic encephalopathy, whereas those in position 209 were related to neurodevelopmental disorder with involuntary movements. Milder phenotypes were associated with other molecular defects such as del.16q12.2q21 and I344del. Conclusion We highlight the complexity of the motor phenotype, which is characterized by fluctuations throughout the day, and hyperkinetic crisis with a distinct post‐hyperkinetic crisis state. We confirm a molecular‐based genotype–phenotype correlation for specific variants. © 2024 International Parkinson and Movement Disorder Society.
Related Topics
Concepts
Phenotype
Hypotonia
Dystonia
Epilepsy
Movement disorders
Medicine
Guanosine diphosphate
Encephalopathy
Neuroscience
Bioinformatics
Internal medicine
Biology
Genetics
Guanosine triphosphate
Psychiatry
Gene
Disease
Nucleotide
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1002/mds.29881
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mds.29881
- OA Status
- bronze
- Cited By
- 11
- References
- 54
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4399754252
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4399754252Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1002/mds.29881Digital Object Identifier
- Title
-
Clinical and Molecular Profiling in
GNAO1 Permits Phenotype–Genotype CorrelationWork title - Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2024Year of publication
- Publication date
-
2024-06-16Full publication date if available
- Authors
-
Amaia Lasa‐Aranzasti, Yonika Arum Larasati, Juliana da Silva Cardoso, Gonzalo P. Solis, Alexey Koval, Ana Cazurro‐Gutiérrez, Juan Darío Ortigoza‐Escobar, Maria Concepción Miranda, Beatriz De la Casa‐Fages, Antonio Moreno, Eduardo F. Tizzano, David Gómez‐Andrés, Edgard Verdura, Vladimir L. Katanaev, Belén Pérez‐DueñasList of authors in order
- Landing page
-
https://doi.org/10.1002/mds.29881Publisher landing page
- PDF URL
-
https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mds.29881Direct link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
bronzeOpen access status per OpenAlex
- OA URL
-
https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mds.29881Direct OA link when available
- Concepts
-
Phenotype, Hypotonia, Dystonia, Epilepsy, Movement disorders, Medicine, Guanosine diphosphate, Encephalopathy, Neuroscience, Bioinformatics, Internal medicine, Biology, Genetics, Guanosine triphosphate, Psychiatry, Gene, Disease, NucleotideTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
11Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 7, 2024: 4Per-year citation counts (last 5 years)
- References (count)
-
54Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.aimed | 39 |
| abstract_inverted_index.brain | 142 |
| abstract_inverted_index.death | 137 |
| abstract_inverted_index.major | 10 |
| abstract_inverted_index.motor | 249 |
| abstract_inverted_index.other | 234 |
| abstract_inverted_index.there | 24 |
| abstract_inverted_index.those | 217 |
| abstract_inverted_index.three | 139 |
| abstract_inverted_index.which | 251 |
| abstract_inverted_index.17.” | 198 |
| abstract_inverted_index.Eleven | 121 |
| abstract_inverted_index.GPCRs. | 179 |
| abstract_inverted_index.Milder | 229 |
| abstract_inverted_index.cases. | 140 |
| abstract_inverted_index.caused | 156 |
| abstract_inverted_index.crisis | 128, 261, 266 |
| abstract_inverted_index.direct | 67 |
| abstract_inverted_index.online | 75 |
| abstract_inverted_index.plasma | 186 |
| abstract_inverted_index.showed | 123 |
| abstract_inverted_index.state. | 267 |
| abstract_inverted_index.Defects | 2 |
| abstract_inverted_index.Methods | 53 |
| abstract_inverted_index.Results | 103 |
| abstract_inverted_index.Spanish | 61 |
| abstract_inverted_index.analyze | 41 |
| abstract_inverted_index.binding | 94, 163, 173 |
| abstract_inverted_index.central | 116 |
| abstract_inverted_index.complex | 112 |
| abstract_inverted_index.confirm | 269 |
| abstract_inverted_index.crisis, | 146 |
| abstract_inverted_index.defects | 109, 155, 236 |
| abstract_inverted_index.explain | 33 |
| abstract_inverted_index.genetic | 108 |
| abstract_inverted_index.leading | 135 |
| abstract_inverted_index.partial | 130 |
| abstract_inverted_index.partner | 91 |
| abstract_inverted_index.patient | 65 |
| abstract_inverted_index.reduced | 176 |
| abstract_inverted_index.related | 15, 210, 222 |
| abstract_inverted_index.studied | 83 |
| abstract_inverted_index.whereas | 216 |
| abstract_inverted_index.(GPCRs). | 102 |
| abstract_inverted_index.Abstract | 0 |
| abstract_inverted_index.Disorder | 283 |
| abstract_inverted_index.Eighteen | 104 |
| abstract_inverted_index.I344del. | 241 |
| abstract_inverted_index.Movement | 282 |
| abstract_inverted_index.Patients | 54 |
| abstract_inverted_index.Society. | 284 |
| abstract_inverted_index.aberrant | 161 |
| abstract_inverted_index.analysis | 70 |
| abstract_inverted_index.benefits | 150 |
| abstract_inverted_index.cellular | 85, 172 |
| abstract_inverted_index.clinical | 43, 68 |
| abstract_inverted_index.coupling | 177 |
| abstract_inverted_index.disorder | 225 |
| abstract_inverted_index.distinct | 264 |
| abstract_inverted_index.encoding | 8 |
| abstract_inverted_index.families | 79 |
| abstract_inverted_index.improved | 144 |
| abstract_inverted_index.interact | 170 |
| abstract_inverted_index.membrane | 187 |
| abstract_inverted_index.movement | 21, 119 |
| abstract_inverted_index.neuronal | 11 |
| abstract_inverted_index.observed | 200 |
| abstract_inverted_index.patients | 105, 122 |
| abstract_inverted_index.position | 207, 219 |
| abstract_inverted_index.specific | 275 |
| abstract_inverted_index.variants | 205 |
| abstract_inverted_index.Decreased | 180 |
| abstract_inverted_index.Parkinson | 280 |
| abstract_inverted_index.analyzed. | 81 |
| abstract_inverted_index.completed | 77 |
| abstract_inverted_index.different | 35 |
| abstract_inverted_index.disorder, | 114 |
| abstract_inverted_index.dystonia. | 152 |
| abstract_inverted_index.epilepsy, | 19, 115 |
| abstract_inverted_index.epileptic | 196, 214 |
| abstract_inverted_index.guanosine | 96 |
| abstract_inverted_index.highlight | 244 |
| abstract_inverted_index.inability | 168 |
| abstract_inverted_index.molecular | 31, 47, 154, 235 |
| abstract_inverted_index.partners, | 174 |
| abstract_inverted_index.phenotype | 44, 192 |
| abstract_inverted_index.proteins, | 92 |
| abstract_inverted_index.receptors | 101 |
| abstract_inverted_index.recovery, | 131 |
| abstract_inverted_index.recruited | 56 |
| abstract_inverted_index.recurrent | 126 |
| abstract_inverted_index.secondary | 133 |
| abstract_inverted_index.variants. | 276 |
| abstract_inverted_index.Background | 1 |
| abstract_inverted_index.Conclusion | 242 |
| abstract_inverted_index.Objectives | 37 |
| abstract_inverted_index.associated | 232 |
| abstract_inverted_index.complexity | 246 |
| abstract_inverted_index.correlated | 189 |
| abstract_inverted_index.disorders, | 18 |
| abstract_inverted_index.disorders. | 22, 52, 120 |
| abstract_inverted_index.hydrolysis | 165 |
| abstract_inverted_index.hypotonia, | 117 |
| abstract_inverted_index.mechanisms | 32 |
| abstract_inverted_index.movements. | 228 |
| abstract_inverted_index.pathogenic | 158, 204 |
| abstract_inverted_index.phenotype, | 250 |
| abstract_inverted_index.phenotypes | 230 |
| abstract_inverted_index.throughout | 256 |
| abstract_inverted_index.‐related | 51 |
| abstract_inverted_index.G‐protein | 12 |
| abstract_inverted_index.activities, | 166 |
| abstract_inverted_index.correlation | 273 |
| abstract_inverted_index.evaluation, | 69 |
| abstract_inverted_index.expression, | 86 |
| abstract_inverted_index.involuntary | 227 |
| abstract_inverted_index.phenotypes. | 36 |
| abstract_inverted_index.stimulation | 143 |
| abstract_inverted_index.Association. | 63 |
| abstract_inverted_index.correlation, | 203 |
| abstract_inverted_index.fluctuations | 255 |
| abstract_inverted_index.hyperkinetic | 127, 145, 260 |
| abstract_inverted_index.inconsistent | 149 |
| abstract_inverted_index.interactions | 88 |
| abstract_inverted_index.localization | 181 |
| abstract_inverted_index.neurological | 124 |
| abstract_inverted_index.phenotyping, | 66 |
| abstract_inverted_index.triphosphate | 97 |
| abstract_inverted_index.International | 279 |
| abstract_inverted_index.Nevertheless, | 23 |
| abstract_inverted_index.characterized | 253 |
| abstract_inverted_index.collaboration | 58 |
| abstract_inverted_index.complications | 134 |
| abstract_inverted_index.developmental | 212 |
| abstract_inverted_index.questionnaire | 76 |
| abstract_inverted_index.understanding | 28 |
| abstract_inverted_index.del.16q12.2q21 | 239 |
| abstract_inverted_index.deterioration, | 125 |
| abstract_inverted_index.encephalopathy | 197 |
| abstract_inverted_index.encephalopathy, | 215 |
| abstract_inverted_index.characterization | 48 |
| abstract_inverted_index.“developmental | 194 |
| abstract_inverted_index.molecular‐based | 271 |
| abstract_inverted_index.homemade‐videos, | 72 |
| abstract_inverted_index.neurodevelopmental | 17, 113, 224 |
| abstract_inverted_index.post‐hyperkinetic | 265 |
| abstract_inverted_index.genotype–phenotype | 202, 272 |
| abstract_inverted_index.G‐protein‐coupled | 100 |
| cited_by_percentile_year.max | 99 |
| cited_by_percentile_year.min | 97 |
| corresponding_author_ids | https://openalex.org/A5032398456, https://openalex.org/A5087206207 |
| countries_distinct_count | 5 |
| institutions_distinct_count | 15 |
| corresponding_institution_ids | https://openalex.org/I114457229, https://openalex.org/I123044942, https://openalex.org/I204947315, https://openalex.org/I2801357902, https://openalex.org/I4210102407, https://openalex.org/I4210111366 |
| citation_normalized_percentile.value | 0.97652234 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | True |