A nationwide survey on Marinesco-Sjögren syndrome in Japan
نویسندگان
چکیده
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.
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Karl Gustaf Torsten Sjögren and Sjögren-Larsson syndrome
Karl Gustaf Torsten Sjögren (1896-1974), (Figure 1), a Swedish psychiatrist and geneticist, was a pioneer of modern Swedish psychiatry.1-4 Sjögren studied medicine at the University of Uppsala.1 From 1932 to 1935, he was Head Physician and Director of Lillehagen Hospital in Gothenburg, and between 19351945, he was physician-in-chief at the psychiatric department of Sahlgrenska Hospital in Gothe...
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