Marinesco-Sjogren Syndrome

Alternative Names

  • MSS
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number


Mode of Inheritance

Autosomal recessive

Gene Map Locus



Marinesco-Sjogren syndrome (MSS) is an autosomal recessive disorder which has been characterized primarily through congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. Other characteristics of MSS involve short stature, hypergonadotrophic hypogonadism, and skeletal deformities due to muscle weakness.

Molecular Genetics

MSS has been allocated to chromosome 5q31 and mutations have been found in SIL1, which is a gene that encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation, and a C-terminal ER retention signal. This protein consists of 461 amino acids and weighs up to 52085 Da, it is necessary for protein translocation and folding in the ER and it functions as a nucleotide exchange factor for the ER luminal chaperone HSPA5.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
248800.1Saudi ArabiaUnknownNo Intellectual disability; Typical featur... NM_022464.5:c.1030-9G>AHomozygousAutosomal, RecessiveAnazi et al. 2016
248800.2.1EgyptFemaleYesYes Global developmental delay; Intellectua... NM_022464.5:c.1312C>THomozygousAutosomal, RecessiveKarim et al. 2006 Proband
248800.2.2EgyptFemaleYesYes Global developmental delay; Intellectu... NM_022464.5:c.1312C>THomozygousAutosomal, RecessiveKarim et al. 2006 Sister of 248800.2.1
248800.2.3EgyptMaleYesYes Global developmental delay; Intellect... NM_022464.5:c.1312C>THomozygousAutosomal, RecessiveKarim et al. 2006 Maternal uncle of 24...
248800.2.4EgyptFemaleYesYes Global developmental delay; Intellec... NM_022464.5:c.1312C>THomozygousAutosomal, RecessiveKarim et al. 2006 Maternal aunt of 248...

Other Reports


Farah et al. (1997) found two brothers affected with Marinesco-Sjogren syndrome (MSS) in a consanguineous Bedouin family. The two brothers were in their twenties and had abnormally short lateral 3 metatarsals, a characteristic that was absent in other healthy family members. They also demonstrated features of hypergonadotropic hypogonadism.

United Arab Emirates

Nair et al. (2016) described a 12-year-old Emirati male, from a consanguineous family, presenting with developmental and speech delay, ataxia and bilateral cataracts. The patient also suffered from intention tremor, dysmetria, dysdiadochokinesia, pectus carinatum, mild kyphosis, bilateral clinodactyly of the fifth fingers and flat feet. His cataracts had been surgically corrected and he had undergone an orchidopexy for an undescended left testis. Brain imaging studies revealed cerebellar atrophy with a dilated fourth ventricle. Subtle facial dysmorphia included bushy eyebrows and a flat mid face with a high arched palate. Based on a tentative diagnosis of MSS, the patient’s SIL1 gene was analyzed thus uncovering a homozygous c.-197_90delinsCTGTACTTTCTCAGTTCACT mutation. Both parents were found to be heterozygous for the indel mutation. Further, the variant was not found in the ExAC browser or the GALAXCTM Allele Frequency Database. 

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