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December 4, 2025LifeOpen Access

Marinesco–Sjögren Syndrome: A Novel SIL1 Variant with In Silico Analysis and Review of the Literature

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Authors

EAElif Sibel AslanSESajjad EslamkhahNANermin Akçalı

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Overview

Case study reveals a new SIL1 variant causing cerebellar ataxia and developmental delay, suggesting the need for advanced molecular diagnostics.

Key Points

  • The identified SIL1 variant disrupts protein function, leading to significant clinical symptoms.
  • In silico analyses confirm the pathogenic role of the variant affecting the chaperone function.
  • Using whole-exome sequencing and Sanger sequencing, critical genetic insights were gathered for diagnosis.
  • The research underscores the importance of comprehensive molecular diagnostics for rare neurogenetic disorders.

Cite This Study

Aslan et al. (2025) studied this question.

synapsesocial.com/papers/6930e8d7ea1aef094cca3985https://doi.org/10.3390/life15121855
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