Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature
| Autor: | Ying Liu, Zhao-Jun Song, Lan-Xiao Cao, Guohua Zhao, Baorong Zhang, Wen-Ying Long |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Myoclonus
Ataxia Compound heterozygosity 03 medical and health sciences 0302 clinical medicine Neuraminidase 1 Mucolipidoses Case report medicine Sialidosis Gene Genetics biology business.industry General Medicine medicine.disease 030220 oncology & carcinogenesis biology.protein 030211 gastroenterology & hepatology medicine.symptom business Neuraminidase |
| Zdroj: | World Journal of Clinical Cases |
| ISSN: | 2307-8960 |
| Popis: | 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.239C>T (p.P80L) and c.544A>G (p.S182G) 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 Mainland China come from three unrelated families, but all three show the NEU1 mutations p.S182G and p.P80L 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. |
| Databáze: | OpenAIRE |
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