We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
A nationwide survey on marinesco-sjögren syndrome in Japan.
- Authors
Masahide Goto; Mari Okada; Hirofumi Komaki; Kenji Sugai; Masayuki Sasaki; Satoru Noguchi; Ikuya Nonaka; Ichizo Nishino; Hayashi, Yukiko K.
- Abstract
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.
- Subjects
JAPAN; SJOGREN'S syndrome; CATARACT; INTELLECTUAL disabilities; ATAXIA; FOUNDER effect; MUSCLE diseases
- Publication
Orphanet Journal of Rare Diseases, 2014, Vol 9, Issue 1, p1
- ISSN
1750-1172
- Publication type
Article
- DOI
10.1186/1750-1172-9-58