Abstract
Background and Objectives: Sialidosis (MIM 256550) is a rare, autosomal recessive inherited disorder caused by α-N-acetyl neuraminidase deficiency due to a mutation in the neuraminidase gene (NEU1) located at chromosomal locus 6p21.33. This genetic change leads to abnormal intracellular accumulation and urinary excretion of sialyloligosaccharides. The diagnostic method based on WES (Whole-Exome Sequencing) technology saves time and cost and provides the basis for more appropriate genetic counseling.
Methods: In this case-descriptive study, after taking samples from patients and their parents in a tube containing EDTA anticoagulant, DNA extraction was performed using the saturated salt method, and the genomes of the patients were analyzed using the whole genome sequencing technique. The found variant was checked for confirmation by the parents using the standard Sanger sequencing technique. For this purpose, the PCR (polymerase chain reaction) method was used to amplify the target fragment, and the Chromas program was used to read the data.
Results: The NM_00043: exon3: c. G451A: p.V1511I variant was identified as homozygous in the patient of the first family. This variant was confirmed in the patient's parents.
Conclusion: The results of this study showed that the identification of new harmful variants in this gene can help to complete the relevant genetic panel and accelerate the identification of patients with sialidosis phenotype.
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Copyright
© 2024, Author(s). This open-access article is available under the Creative Commons Attribution 4.0 (CC BY 4.0) International License (https://creativecommons.org/licenses/by/4.0/), which allows for unrestricted use, distribution, and reproduction in any medium, provided that the original work is properly cited.