文摘
Marinesco-Sj?gren 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-Sj?gren syndrome. We describe two Turkish patients with clinical characteristics of Marinesco-Sj?gren syndrome, but without mutations in SIL1. These two patients also manifested cerebral white matter involvement in cranial imaging, which was previously described in Marinesco-Sj?gren syndrome. Marinesco-Sj?gren syndrome is genetically heterogeneous, and mutations of SIL1 are often not evident. Consequently, we presume that new genes for Marinesco-Sj?gren 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.
