Congenital cataract, ataxia, external ophthalmoplegia and dysphagia in two siblings. A Marinesco-Sjögren-like syndrome.
Marinesco-Sjögren syndrome (MSS) is an autosomal recessive multiorgan disorder with clinical and genetic heterogeneity. The key features of MSS include cerebellar ataxia, early bilateral cataracts, delayed motor development, and to a varying degree mental retardation. The syndrome was recently mapped to chromosome 5q31, and loss-of-function mutations in the SIL1 gene have been identified as the primary pathology. Here, we describe two German siblings with clinical characteristics resembling those seen in many cases of MSS except that a marked cerebellar atrophy was not detectable in our patients. In addition, both patients presented with external ophthalmoplegia and paralytic dysphagia. Sequencing of all 10 exons of the SIL1 gene did not detect any SIL1 mutation in our patients.
Schulz
S
S
Institute of Human Genetics, Otto-von-Guericke-University, Magdeburg, Germany. solveig.schulz@medizin.uni-magdeburg.de
Vielhaber
S
S
Muschke
P
P
Mohnike
K
K
Gooding
R
R
Wieacker
P
P
D000328:Adult; D002386:Cataract / Q000151:congenital* / Q000235:genetics / Q000473:pathology*; D002524:Cerebellar Ataxia / Q000235:genetics / Q000473:pathology*; D002648:Child; D003680:Deglutition Disorders / Q000235:genetics / Q000473:pathology*; D005260:Female; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009886:Ophthalmoplegia / Q000235:genetics / Q000473:pathology*; D013132:Spinocerebellar Degenerations / Q000235:genetics / Q000473:pathology; D013577:Syndrome
D020662:Guanine Nucleotide Exchange Factors; C418483:SIL1 protein, human