Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature

被引:0
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作者
Lan-Xiao Cao [1 ]
Ying Liu [2 ]
Zhao-Jun Song [2 ]
Bao-Rong Zhang [3 ]
Wen-Ying Long [2 ]
Guo-Hua Zhao [1 ]
机构
[1] Department of Neurology, The Fourth Affiliated Hospital, Zhejiang University School of Medicine
[2] Central Laboratory, The Fourth Affiliated Hospital, Zhejiang University School of Medicine
[3] Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine
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中图分类号
R725.9 [小儿全身性疾病];
学科分类号
100202 ;
摘要
BACKGROUND Type 1 sialidosis, also known as cherry-red spot-myoclonus syndrome, is a rare autosomal recessive lysosomal storage disorder presenting in the second decade of life. The most common symptoms are myoclonus, ataxia and seizure. It is rarely encountered in the Chinese mainland.CASE SUMMARY A 22-year-old male presented with complaints of progressive myoclonus, ataxia and slurred speech, without visual symptoms; the presenting symptoms began at the age of 15-year-old. Whole exome sequencing revealed two pathogenic heterozygous missense variants [c.239 C>T(p.P80 L) and c.544 A>G(p.S182 G) in the neuraminidase 1(NEU1) gene], both of which have been identified previously in Asian patients with type 1 sialidosis. All three patients identified in China’s mainland come from three unrelated families, but all three show the NEU1 mutations p.S182 G and p.P80 L pathogenic variants. Increasing sialidase activity through chaperones is a promising therapeutic target in sialidosis.CONCLUSION Through retrospective analysis and summarizing the clinical and genetic characteristics of type 1 sialidosis, we hope to raise awareness of lysosomal storage disorders among clinicians and minimize the delay in diagnosis.
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页码:623 / 631
页数:9
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