title: Heterogeneity of Marinesco-Sjögren syndrome: report of two cases.
abstract: Marinesco-Sjögren 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-Sjögren syndrome. We describe two Turkish patients with clinical characteristics of Marinesco-Sjögren syndrome, but without mutations in SIL1. These two patients also manifested cerebral white matter involvement in cranial imaging, which was previously described in Marinesco-Sjögren syndrome. Marinesco-Sjögren syndrome is genetically heterogeneous, and mutations of SIL1 are often not evident. Consequently, we presume that new genes for Marinesco-Sjögren 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.
authors: Department of Pediatric Neurology, Gaziantep Children's Hospital, Gaziantep, Turkey. ulyis@yahoo.com
authors: Uluç
authors: U
authors: Yiş
authors: Sebahattin
authors: S
authors: Cirak
authors: Semra
authors: S
authors: Hız
authors: Handan
authors: H
authors: Cakmakçı
authors: Eray
authors: E
authors: Dirik
mesh_terms: D002648:Child; D002675:Child, Preschool; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D005260:Female; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation / Q000235:genetics*; D017422:Sequence Analysis, DNA; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics*
chemical_list: D020662:Guanine Nucleotide Exchange Factors; C418483:SIL1 protein, human