Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

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
	neurology
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
deletion		truncated protein	several type, but frequent skipping of the exon 6 and leading to decreased rate of HSPA5 hydrolysis and abnormal protein folding

Remark(s)

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)