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Exploring the association between SRPX2 variants and neurodevelopment: How causal is it?
Schaida Schirwani1, Vivienne McConnell2, Josh Willoughby3
1Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK.
Gene
|November 6, 2018
Summary
Sushi-repeat-containing protein, X-linked, 2 (SRPX2) gene variants are linked to neurodevelopmental disorders. This study examines two patients with SRPX2 variants, revealing their contribution to language delay, intellectual disability, and congenital anomalies.
Area of Science:
- Genetics and Molecular Biology
- Neuroscience
- Developmental Biology
Background:
- The SRPX2 gene, located on the X chromosome, encodes a secreted protein highly expressed in cerebral cortex neurons.
- SRPX2 has been previously associated with neurodevelopment, learning, and seizures, with experimental studies in mice linking it to vocalization and synapse formation.
Observation:
- This paper describes two patients with potentially pathogenic variants in the SRPX2 gene (c.751G>C and c.762G>T).
- These patients presented with language and motor delays, intellectual disability, and congenital anomalies.
Findings:
- The identified SRPX2 variants at least partially explain the observed clinical phenotypes in the patients.
- Experimental evidence suggests SRPX2 is crucial for neuronal migration and its dysregulation can lead to epilepsy.
Implications:
- SRPX2 plays a role in a network of genes influencing speech and language development.
- Further research is necessary to confirm the definitive association between SRPX2 variants and neurodevelopmental disorders, particularly speech and language impairments.
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