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Situs Inversus Totalis and Severe Early-Onset Developmental Epileptic Encephalopathy in a Child With a Homozygous
Anwar Abu Hetta1,2, Lina Abughaboosh2, Jenan Al-Qasrawi2
1Department of Pediatrics Hebron Governmental Hospital Hebron Palestine.
Insights
A rare CFAP52 gene mutation caused severe neurodevelopmental issues and situs inversus totalis in a child. This case expands understanding of CFAP52-related ciliopathies and highlights genomic testing
Area of Science:
- Genetics
- Neurology
- Developmental Biology
Background:
- Ciliopathies are genetic disorders affecting cilia, crucial cellular organelles.
- CFAP52 mutations are associated with specific ciliopathies, but the full spectrum is not well-defined.
- Complex neuro-visceral presentations pose diagnostic challenges.
Purpose of the Study:
- To describe a novel presentation of a CFAP52-related ciliopathy.
- To expand the known phenotypic spectrum of CFAP52 mutations.
- To emphasize the utility of comprehensive genomic testing in complex cases.
Main Methods:
- Case report of a 2-year-old boy.
- Clinical phenotyping including neurological and imaging assessments.
- Trio whole-exome sequencing for genetic analysis.
Main Results:
- Identified a homozygous CFAP52 mutation.
- Observed situs inversus totalis, severe epileptic developmental encephalopathy, and global developmental delay.
- A homozygous NCAPG2 variant of uncertain significance was also found but not causally linked.
Conclusions:
- This case broadens the phenotypic spectrum of CFAP52-related ciliopathies.
- Comprehensive genomic testing is vital for diagnosing complex neuro-visceral disorders.
- Careful interpretation of co-inherited variants is essential in atypical presentations.
Abstract:
We report a 2-year-old boy with a homozygous CFAP52 mutation presenting with situs inversus totalis, severe epileptic developmental encephalopathy, and global developmental delay, expanding the phenotypic spectrum of CFAP52-related ciliopathies. Clinical findings included multifocal epileptiform discharges, thin corpus callosum, and a small subdural hematoma. Trio whole-exome sequencing also revealed a homozygous NCAPG2 variant of uncertain significance, however, its clinical significance remains unproven and no causal relationship can be established. This case highlights the diagnostic value of comprehensive genomic testing in complex neuro-visceral disorders and underscores the importance of cautious interpretation of co-inherited variants in atypical ciliopathy presentations. The report follows CARE guidelines.
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