Novel compound heterozygous SIL1 variants associated with Marinesco-Sjögren syndrome in a Chinese family.

Novel compound heterozygous SIL1 variants linked to Marinesco-Sjögren syndrome in a Chinese girl impair SIL1-BiP interaction and reduce protein levels.

• Why it matters: Understanding genetic mutations underlying MSS is crucial for accurate diagnosis and potential targeted therapies, especially in diverse populations like the Chinese.
• What they did: Researchers used whole exome and Sanger sequencing to identify SIL1 mutations, then employed RNA-seq, RT-qPCR, Western blot, immunofluorescence, structural prediction, and coimmunoprecipitation to analyze their effects.
• The result: The study found that these mutations decrease SIL1 mRNA and protein levels and weaken SIL1-BiP binding, providing functional evidence of their role in MSS development in this family.