title: Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco-Sjögren syndrome.
abstract: Marinesco-Sjögren syndrome (MSS) is an autosomal recessive multisystem disorder characterized by cerebellar ataxia, cataracts, progressive muscular weakness, and developmental and mental retardation. Recently, mutations in the SIL1 gene on chromosome 5q31 have been shown to be a cause of MSS. We sequenced the entire SIL1-coding region in 3 unrelated Japanese patients with classical MSS and identified a novel homozygous frameshift insertion mutation, 936_937insG, in exon 9 in all 3 patients.
authors.affiliation: Department of Internal Medicine, Faculty of Medicine, Saga University, Saga, Japan.
authors.forename: Makoto
authors.initials: M
authors.lastname: Eriguchi
authors.forename: Haruo
authors.initials: H
authors.lastname: Mizuta
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Kurohara
authors.forename: Junko
authors.initials: J
authors.lastname: Fujitake
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Kuroda
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007564:Japan; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D013132:Spinocerebellar Degenerations / Q000235:genetics* / Q000473:pathology
chemical_list: D020662:Guanine Nucleotide Exchange Factors; C418483:SIL1 protein, human