[article]
| Titre : |
Atypical GNAO1 variants in severe childhood speech disorders: clinical, genetic, and molecular insights |
| Type de document : |
texte imprimé |
| Auteurs : |
Yonika A. LARASATI, Auteur ; Moritz THIEL, Auteur ; Ainara SALAZAR-VILLACORTA, Auteur ; Alexey KOVAL, Auteur ; Manju A. KURIAN, Auteur ; Anne KOY, Auteur ; Angela T. MORGAN, Auteur ; Vladimir L. KATANAEV, Auteur ; Gonzalo P. SOLIS, Auteur |
| Langues : |
Anglais (eng) |
| Index. décimale : |
PER Périodiques |
| Résumé : |
The etiology of severe childhood speech disorders, including childhood apraxia of speech (CAS), is currently understood as genetically heterogeneous, with over 40 distinct monogenic conditions reported to date. Among them, the p.Thr327Arg variant in GNAO1, encoding the major neuronal G protein Gαo, was identified in one patient diagnosed with CAS and intellectual disability (ID). This presentation is exceptionally rare, as GNAO1 mutations are commonly associated with epilepsy, hyperkinetic movement disorders, and global developmental delay, often accompanied by ID. |
| En ligne : |
https://doi.org/10.1186/s13229-025-00696-8 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584 |
in Molecular Autism > 17 (2026)
[article] Atypical GNAO1 variants in severe childhood speech disorders: clinical, genetic, and molecular insights [texte imprimé] / Yonika A. LARASATI, Auteur ; Moritz THIEL, Auteur ; Ainara SALAZAR-VILLACORTA, Auteur ; Alexey KOVAL, Auteur ; Manju A. KURIAN, Auteur ; Anne KOY, Auteur ; Angela T. MORGAN, Auteur ; Vladimir L. KATANAEV, Auteur ; Gonzalo P. SOLIS, Auteur. Langues : Anglais ( eng) in Molecular Autism > 17 (2026)
| Index. décimale : |
PER Périodiques |
| Résumé : |
The etiology of severe childhood speech disorders, including childhood apraxia of speech (CAS), is currently understood as genetically heterogeneous, with over 40 distinct monogenic conditions reported to date. Among them, the p.Thr327Arg variant in GNAO1, encoding the major neuronal G protein Gαo, was identified in one patient diagnosed with CAS and intellectual disability (ID). This presentation is exceptionally rare, as GNAO1 mutations are commonly associated with epilepsy, hyperkinetic movement disorders, and global developmental delay, often accompanied by ID. |
| En ligne : |
https://doi.org/10.1186/s13229-025-00696-8 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=584 |
|  |
Atypical GNAO1 variants in severe childhood speech disorders: clinical, genetic, and molecular insights in Molecular Autism, 17 (2026)
