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last update : 23-12-2013
Symbol MSS
Location 5q31.2
HGNC id 7378
Name Marinesco-Sjogren syndrome
Corresponding gene SIL1
Main clinical features
  • cerebellar ataxia, congenital cataract, and retarded somatic and mental maturation, progressive muscular weakness, hypotonia, elevated serum creatine kinase, cerebellar massive cortical atrophy and hypergonadotrophic hypogonadism
  • severe progressive myopathy; CT findings in patients with relatively severe clinical picture were characterized by severe involvement of the posterior thoracic and pelvic muscles, and almost all thigh muscles
  • Genetic determination autosomal recessive
    Function/system disorder eye
    mental retardation
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    deletion   truncated protein several type, but frequent skipping of the exon 6 and leading to decreased rate of HSPA5 hydrolysis and abnormal protein folding
  • mutant proteins formed aggregates within the ER depending on the expression level, and aggregation of mutant proteins may contribute to MSS pathogenesis
  • mutation in the C-terminal residues of SIL1 leading to changes in the structure of the remaining protein that affect its stability and/or solubility (PMID: 22219183))
  • Genotype/Phenotype correlations mutation Q438X in exon 10 truncate the protein and probably abolishes the putative ER retention sequence, leading to moderate form (without cerebellar ataxia)