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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 reports pathogenic sil1 variant in a child with cerebellar ataxia, suggesting the need for molecular diagnostics.

Key Points

  • The sil1 variant led to truncation of a 461-amino-acid protein into a 189-amino-acid peptide, impacting protein function.
  • Whole-exome sequencing confirmed a homozygous splice-site variant, detailed by Sanger sequencing and segregation analysis.
  • Structural modeling via Phyre2 and I-TASSER indicated loss of critical arm repeats that affect protein stability and function.
  • Highlighting the significance of combining genomic and clinical data for better understanding of genotype-phenotype correlations.

Cite This Study

Aslan et al. (2025) studied this question.

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

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Novel compound heterozygous SIL1 variants associated with Marinesco-Sjögren syndrome in a Chinese family2026
  2. 2Sil1-deficient fibroblasts generate an aberrant extracellular matrix leading to tendon disorganisation in Marinesco-Sjögren syndrome2024 · 2 citations
  3. 3Cosegregation of congenital dysferlinopathy phenotype and marinesco–sjögren syndrome: a case report with literature review2026
  4. 4Muscle Imaging Approaches in Marinesco–Sjögren Syndrome: A Systematic Review and Two New Clinical Reports2026
  5. 5Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?2024