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Article

Atypical GNAO1 variants in severe childhood speech disorders: clinical, genetic, and molecular insights.

Molecular autism - 12 Dec 2025

Larasati Yonika A, Thiel Moritz, Salazar-Villacorta Ainara, Koval Alexey, Kurian Manju A, Koy Anne, Morgan Angela T, Katanaev Vladimir L, Solis Gonzalo P

Abstract excerpt

BACKGROUND: 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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41387899
DOI: 10.1186/s13229-025-00696-8
PMCID: PMC12781765

Genes

GNAO1
RGS19

Variants

Provenance

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