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A previously identified missense mutation in STYXL1 is likely benign
Holger Hengel1, Yvonne Schelling2, Reinhard Keimer3
1Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.
European Journal of Medical Genetics
|November 26, 2018
Summary
The STYXL1 gene variant p.Pro311Ala, previously linked to intellectual disability and epilepsy, is likely benign. Further research is needed to establish the role of STYXL1 variants in human diseases.
Area of Science:
- Genetics
- Neurodevelopmental Disorders
- Human Disease Etiology
Background:
- A homozygous missense variant (p.Pro311Ala) in the STYXL1 gene was previously implicated in moderate intellectual disability, epilepsy, and behavioral issues within a consanguineous family.
- This variant was identified in a homozygous state in two additional families through whole exome sequencing.
Discussion:
- Segregation analyses and extensive validation across international genetic databases suggest the p.Pro311Ala variant is benign, contradicting previous associations.
- This finding has significant implications for genetic counseling, particularly regarding the interpretation of STYXL1 variants.
Key Insights:
- The STYXL1 p.Pro311Ala variant, previously suspected of causing neurodevelopmental and behavioral conditions, is likely not pathogenic.
- Re-evaluation of genetic variants is crucial, especially when initial findings are based on limited family data.
Outlook:
- The precise role of STYXL1 gene variants in human disease requires further investigation.
- Future studies should focus on identifying definitive pathogenic STYXL1 variants and elucidating their functional consequences.
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