Phenotypic Diversity in GNAO1 Patients: A Comprehensive Overview of Variants and Phenotypes

Figure 5

Evaluation of MD in GNAO1 patients. (a) Frequency at which an MD phenotype is observed in GNAO1 patients () and distribution of the type of MD symptoms ( MD patients). A single patient may exhibit multiple MD symptoms. Frequencies of MD subtypes are calculated from 157 GNAO1 MD patients, for which a more detailed description was available. (b) Number of patients with MD caused by missense mutations or variants affecting splicing which result in AA insertions or truncated out-of-frame products. Percentages of GNAO1 patients with MD are indicated for AA variants that have been found in >4 MD patients. Location of the P-loop and switch I, II, and III regions is indicated. Mutation hotspots are depicted as red circles. Of note, depicted percentages and absolute numbers are only an indication as movement symptoms may change over time or may arise only later in childhood after the publication of the initial case report.

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