| Autor: |
Veronica Arora, Nitika Setia, Ashwin Dalal, Maria Celestina Vanaja, Deepti Gupta, Tinku Razdan, Shubha R. Phadke, Renu Saxena, Anshu Rohtagi, Ishwar C. Verma, Ratna Dua Puri |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Předmět: |
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| Zdroj: |
Molecular Genetics and Metabolism Reports, Vol 22, Iss , Pp - (2020) |
| Druh dokumentu: |
article |
| ISSN: |
2214-4269 |
| DOI: |
10.1016/j.ymgmr.2019.100561 |
| Popis: |
Sialidosis, an autosomal recessive disorder, is characterized by progressive lysosomal storage of sialylated glycopeptides and oligosaccharides. It occurs as a result of biallelic mutations in the NEU1 gene. Sialidosis is traditionally classified as a milder, late-onset type I and a severe early-onset type II disease. The presence of a cherry-red spot is a well-established ophthalmological clue to the disorder. We present a clinical-radiological report of seven unrelated patients with molecularly confirmed sialidosis type II. To the best of our knowledge, This is the largest reported series of patients with Sialidosis type II. A novel, previously unreported ophthalmic phenotype of bulls-eye maculopathy, is described. All seven phenotypically heterogeneous patients had the same pathogenic variant (c.679G > A; p.Gly227Arg) at a homozygous level in the NEU1 gene. We propose that this is a common mutation in north Indians for this rare disorder. We also observed an overlap of symptoms and a continuum of phenotypes in type I and II Sialidosis. Keywords: Common mutation, Bull's eye maculopathy, Sialidosis type II, NEU1, Polypheny, North India |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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