What question did this study set out to answer?

To evaluate the functionality of NAA10 variants in patients diagnosed with Ogden syndrome.

December 9, 2025Psychiatric Genetics

Functional evaluation of NAA10 variants in patients with Ogden syndrome

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Authors

AGAydeniz Aydın Gümüş MDMustafa Doğan AGAlper Gezdirici

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Overview

This research finds novel NAA10 gene variants linked to autism and intellectual disability in patients with Ogden syndrome, suggesting critical roles in acetylation processes.

Key Points

To evaluate the functionality of NAA10 variants in patients diagnosed with Ogden syndrome.
Conducted whole-exome sequencing on blood samples from two female patients with Ogden syndrome.
Performed molecular docking, protein stability analysis, and tertiary structure modeling to assess NAA10 variants.
Identified two novel heterozygous variants in the NAA10 gene.
Documented significant clinical features including autism spectrum disorder, intellectual disability, and epilepsy in patients.
Identified NAA10 gene variants c.346C>T and c.439A>T associated with observed symptoms.
Found that these variants affect the NAA10 protein's structure and stability, impacting its function.

Cite This Study

Gümüş et al. (2025) studied this question.

synapsesocial.com/papers/69401efa2d562116f28f99b2 https://doi.org/10.1097/ypg.0000000000000409

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December 9, 2025Psychiatric Genetics

Functional evaluation of NAA10 variants in patients with Ogden syndrome

View Full Paper

Ask AI

Bookmark

Authors

AGAydeniz Aydın Gümüş MDMustafa Doğan AGAlper Gezdirici

Discussion

Member takes

Overview

This research finds novel NAA10 gene variants linked to autism and intellectual disability in patients with Ogden syndrome, suggesting critical roles in acetylation processes.

Key Points

To evaluate the functionality of NAA10 variants in patients diagnosed with Ogden syndrome.
Conducted whole-exome sequencing on blood samples from two female patients with Ogden syndrome.
Performed molecular docking, protein stability analysis, and tertiary structure modeling to assess NAA10 variants.
Identified two novel heterozygous variants in the NAA10 gene.
Documented significant clinical features including autism spectrum disorder, intellectual disability, and epilepsy in patients.
Identified NAA10 gene variants c.346C>T and c.439A>T associated with observed symptoms.
Found that these variants affect the NAA10 protein's structure and stability, impacting its function.

Cite This Study

Gümüş et al. (2025) studied this question.

synapsesocial.com/papers/69401efa2d562116f28f99b2 https://doi.org/10.1097/ypg.0000000000000409

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