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Arora, Veronica and Setia, Nitika and Dalal, Ashwin and Vanaja, M.C. and Gupta, Deepti and Razdan, Tinku and Phadke, S.R. and Saxena, Renu and Rohtagi, Anshu and Verma, I.C. and Puri, R.D. (2020) Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients. Molecular Genetics and Metabolism Reports, 22. p. 100561. ISSN 2214-4269

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Abstract

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.

Item Type: Article
Subjects: Genetics
Depositing User: Dr P Divakar
Date Deposited: 20 Jan 2020 05:10
Last Modified: 20 Jan 2020 05:30
URI: http://cdfd.sciencecentral.in/id/eprint/937

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