Heterogeneity of Marinesco-Sjogren Syndrome: Report of Two Cases

Yis U., Cirak S., HIZ A. S., Cakmakci H., Dirik E.

PEDIATRIC NEUROLOGY, vol.45, no.6, pp.409-411, 2011 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 45 Issue: 6
  • Publication Date: 2011
  • Doi Number: 10.1016/j.pediatrneurol.2011.08.015
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.409-411
  • Dokuz Eylül University Affiliated: Yes


Marinesco-Sjogren syndrome is an autosomal recessive, multiorgan disorder with cardinal features of cerebellar ataxia, congenital or early childhood cataracts, psychomotor retardation, myopathy, and short stature. Mutations in the SIL1 gene on chromosome 5q31 were demonstrated to cause Marinesco-Sjogren syndrome. We describe two Turkish patients with clinical characteristics of Marinesco-Sj6gren syndrome, but without mutations in SIL1 These two patients also manifested cerebral white matter involvement in cranial imaging, which was previously described in Marinesco-Sjogren syndrome. Marinesco-Sjogren syndrome is genetically heterogeneous, and mutations of SIL1 are often not evident. Consequently, we presume that new genes for Marinesco-Sjogren syndrome await discovery. New genes hold the promise of furthering the mechanistic understanding of the condition, enabling clinically meaningful genetic classification schemes to be designed. (C) 2011 Elsevier Inc. All rights reserved.