Polymorphic variants (p.Ser141Ser and p.Arg737Gly) at the NAGLU gene are really indicative of pseudodeficiency alleles?

• Main Authors: Diana Rojas Malaga, Sandra Leistner-Segal, Ana Carolina Brusius-Facchin
• Format: Article
• Language: English
• Published: BMC 2019-05-01
• Series: Italian Journal of Pediatrics
• Subjects: NAGLU gene; Alpha-N-acetyl-D-glucosaminidase; Pseudodeficiency allele; Sanfilippo B syndrome
• Online Access: http://link.springer.com/article/10.1186/s13052-019-0657-3

Abstract Filocamo et al. recently published a paper describing the presence of a pseudodeficiency allele, constituted by p.Ser141Ser and p.Arg737Gly polymorphisms at the NAGLU gene, which leads to a reduced level of the alpha-N-acetyl-D-glucosaminidase activity. Based on analysis performed in Brazilian patients, using a customized gene panel containing SGSH, NAGLU, HGSNAT and GNS we observed that p.Ser141Ser (rs659497) and p.Arg737Gly (rs86312) variants were present in homozygosis in all of our MPS IIIB patients and in the majority of MPS IIIA, IIIC and IIID patients, and there was no significant decrease of the alpha-N-acetyl-D-glucosaminidase enzyme activity in this group when compared with those without the “pseudodeficiency allele”. Thus, we suggest that these two variants are not producing a pseudodeficiency allele.