Skip to main content

01.12.2014 | Research | Ausgabe 1/2014 Open Access

Orphanet Journal of Rare Diseases 1/2014

A nationwide survey on Marinesco-Sjögren syndrome in Japan

Orphanet Journal of Rare Diseases > Ausgabe 1/2014
Masahide Goto, Mari Okada, Hirofumi Komaki, Kenji Sugai, Masayuki Sasaki, Satoru Noguchi, Ikuya Nonaka, Ichizo Nishino, Yukiko K Hayashi
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1186/​1750-1172-9-58) contains supplementary material, which is available to authorized users.

Competing interests

The authors declare that they have no competing of interest.

Authors’ contributions

MG had full access to all the data in the study and wrote the manuscript; MO performed the mutation analysis; HK participated in analyzing all the clinical data; KS, MS, SN, I Nonaka, and I Nishino were involved in data interpretation and also supervised manuscript preparation. YKH supervised all aspects of the study, including study design, data interpretation, and manuscript preparation. All authors read and approved the final manuscript.



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.


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.


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.


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.
Additional file 1: Table S1: Clinical findings of each patient with or without SIL1 mutations. (DOCX 87 KB)
Authors’ original file for figure 1
Über diesen Artikel

Weitere Artikel der Ausgabe 1/2014

Orphanet Journal of Rare Diseases 1/2014 Zur Ausgabe