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September 5, 2025Frontiers in GeneticsOpen Access

A de novo mutation in RAB11A is associated with neurodevelopmental disorder accompanied by variable multisystem abnormalities

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Authors

HZHuiting ZhangJZJingtao ZhangXMXue Ma

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Overview

Observational analysis found a de novo mutation in rab11a linked to neurodevelopmental disorders, suggesting a genetic basis for brain anomalies.

Key Points

  • The RAB11A mutation was associated with significant motor deficits and abnormalities in brain structure.
  • Affected individuals exhibited intellectual disability, cerebral atrophy, obesity, and abnormal muscle tone.
  • Analysis utilized CRISPR/Cas9 to study rab11a disruption in zebrafish larvae, revealing critical developmental impacts.
  • The findings may aid in understanding RAB11A-related neurodevelopmental disorders and developing future models.

Cite This Study

Zhang et al. (2025) studied this question.

synapsesocial.com/papers/68c239a3b210217d6477d4dehttps://doi.org/10.3389/fgene.2025.1636206
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Investigating the role of rare missense variants in RAB11B in Autism Spectrum Disorder2025
  2. 2An R83W mutation in Rab3A causes autosomal-dominant cerebellar ataxia2025
  3. 3Mutation of ube3a causes developmental abnormalities and autism-like molecular and behavioral alterations in zebrafish2025
  4. 4ATP5F1A deficiency causes developmental delay and motor dysfunction in humans and zebrafish2025
  5. 5Usmani–Riazuddin Syndrome: Functional Characterization of a Novel c.196G>A Variant in the AP1G1 Gene and Phenotypic Insights Using Zebrafish as a Vertebrate Model2025