Neurodevelopmental disorder associated with gene ARF3: A case report
Suelen Dos Santos Henrique1, Mariana Jordão França2, Rui Carlos Silva Junior1
1Pediatric Neurology Department, Hospital Pequeno Príncipe, Curitiba, Paraná, Brazil.
American Journal of Medical Genetics. Part A
|May 7, 2024
Summary
A rare ARF3 gene variant causes acquired microcephaly, global developmental delay, and drug-resistant epilepsy. This case highlights ARF3-associated disorder, a type of Golgipathy, and its distinctive brain abnormalities.
Area of Science:
- Genetics
- Neurology
- Developmental Biology
Background:
- The ARF3 gene is implicated in rare neurodevelopmental disorders.
- Golgipathies represent a group of conditions affecting cellular trafficking and development.
- Understanding genetic contributions to brain malformations is crucial for diagnosis.
Observation:
- A patient presented with acquired microcephaly, global developmental delay, and drug-resistant epilepsy.
- Brain MRI revealed a Z-shaped brainstem, reduced white matter, thin corpus callosum, and fused cerebellar hemispheres.
- Whole-exome sequencing identified a pathogenic ARF3 variant (c.200A>T, p.(Asp67Val)).
Findings:
- This case represents the third documented instance of ARF3-associated neurodevelopmental disorder.
- The disorder is characterized by global developmental delay, epilepsy, and specific brain malformations.
- Phenotypic overlap with Golgipathies was observed, suggesting a shared pathway.
Implications:
- The ARF3-associated disorder is a rare cause of developmental delay and brain malformations.
- A Z-shaped brainstem morphology is a potential diagnostic clue for ARF3-associated disorder.
- This finding expands the known spectrum of ARF3-related neurodevelopmental conditions and Golgipathies.
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