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Background  Marinesco-Sjögren syndrome (MSS) is an autosomal recessive multisystem disorder characterized by the tetralogy of cerebellar ataxia, congenital cataracts, intellectual disability, and progressive muscle weakness due to myopathy. MSS is extremely rare, and its clinical, pathological, and genetic features are not yet fully understood.    Methods  We conducted a nationwide, questionnaire-based survey on MSS in Japan and carefully reviewed the medical records of 36 patients suspected of having this disease. In addition, pathological examinations of muscles, sequence and haplotype analysis in  SIL1  were performed.    Results  The patients had been examined between the ages of 2 and 52 years. Delayed psychomotor development and cataracts from early childhood were observed in all patients, whereas no life-threatening events were observed. Mutations in  SIL1  were identified in 24 of the 27 patients tested, and 43 of the 48 chromosomes possessed the  SIL1  c.936dupG (p.Leu313fs) mutation. The haplotype analysis revealed that 31 of the 32 chromosomes (96.9%) with the c.936dupG mutation had the same haplotype.    Conclusions  The results of haplotype analysis suggested the presence of a founder effect. The clinical features of patients without  SIL1  mutations were indistinguishable from those with  SIL1  mutations, suggesting the genetic heterogeneity of MSS.

A nationwide survey on Marinesco-Sjögren syndrome in Japan