Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients

AbstractLysosomal storage diseases (LSDs) are known as genetic disorders with an overall prevalence of 1 per 7700 live births. Sphingolipidosis, which is a subgroup of LSDs, is resulted from mutations in the coding genes of specific enzymes of sphingolipid hydrolases. The current study aimed to provide additional knowledge on the genotype of sphingolipidoses disease among Iranian patients affected by the disease. In this research, we studied 68 unrelated Iranian patients diagnosed with one kind of sphingolipidoses from 2014 to 2019. Thereafter, genomic DNA was isolated from their peripheral blood leukocytes samples in EDTA in terms of the manufacturer ’s protocol. All the coding exons and exon–intron boundaries of the related genes were sequenced and then analyzed using the NCBI database. Finally, they were reviewed using some databases such as the Human Gene Mutation Database (HGMD) and ClinVar (https://www.ncbi.nlm.nih.gov/clinva). By studying 22 MLD patients, 18 different variations of theARSA gene were found, one of which was new including, named as c.472  T >  G p. (Cys158Gly). Out of 15 Sandhoff disease (SD) patients, 11 different variations of theHEXB gene were found. Correspondingly, the c.1083-2delA was not reported earlier. By investigating 21 Iranian patients with Tay-Sachs disease (TSD), one new variant was found as c.622delG. The study of 10 Niemann –Pick disease A/B (NPDA/B (patients has led to the identification of 9 differentSMPD1 gene variations...
Source: Journal of Molecular Neuroscience - Category: Neuroscience Source Type: research