Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco–Sjögren syndrome
| Autor: | Makoto Eriguchi, Yasuo Kuroda, Junko Fujitake, Kazuhiro Kurohara, Haruo Mizuta |
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| Rok vydání: | 2008 |
| Předmět: |
Adult
Male DNA Mutational Analysis Marinesco–Sjögren syndrome medicine.disease_cause Frameshift mutation Exon Japan Cataracts medicine Guanine Nucleotide Exchange Factors Humans Insertion Frameshift Mutation Spinocerebellar Degenerations Genetics Mutation Cerebellar ataxia business.industry Homozygote Chromosome Exons Middle Aged medicine.disease Magnetic Resonance Imaging eye diseases digestive system diseases Neurology Female Neurology (clinical) medicine.symptom business |
| Zdroj: | Journal of the Neurological Sciences. 270:197-200 |
| ISSN: | 0022-510X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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