Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease

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• 作者：Maja Tarailo-Graovac ; Britt I. Drögemöller…
• 关键词：Sialic acid storage disease ; Salla disease ; SLC17A5 ; Whole exome sequencing ; Transposon insertion
• 刊名：Orphanet Journal of Rare Diseases
• 出版年：2017
• 出版时间：December 2017
• 年：2017
• 卷：12
• 期：1
• 全文大小：1002KB
• 刊物主题：Medicine/Public Health, general; Pharmacology/Toxicology; Human Genetics;
• 出版者：BioMed Central
• ISSN：1750-1172
• 卷排序：12

文摘

BackgroundSialic acid storage diseases are neurodegenerative disorders characterized by accumulation of sialic acid in the lysosome. These disorders are caused by mutations in SLC17A5, the gene encoding sialin, a sialic acid transporter located in the lysosomal membrane. The most common form of sialic acid storage disease is the slowly progressive Salla disease, presenting with hypotonia, ataxia, epilepsy, nystagmus and findings of cerebral and cerebellar atrophy. Hypomyelination and corpus callosum hypoplasia are typical as well. We report a 16 year-old boy with an atypically mild clinical phenotype of sialic acid storage disease characterized by psychomotor retardation and a mixture of spasticity and rigidity but no ataxia, and only weak features of hypomyelination and thinning of corpus callosum on MRI of the brain.