Mucopolysaccharidosis type III (Sanfilippo syndrome) genetics for children from Azerbaijan

Alizada Sevda Aydin

Enzyme analysis based we were able to identify deficiency of Heparan N-sulfatase and Heparan acetyl-CоА-glucosamine-N-acetyltransferase, which coincide with MPS subtypes as MPS IIIA and MPS IIIC - Sanfilippo syndrome. Molecular genetic analysis of SGSH and HGSNAT genes identified their mutations. For SGSH gene mutation c.7_16del (Cys3ProfsTer) was identified, and for HGSNAT there were two mutations found: c.852-1G>A in intron 9 and c.1345dup in exon 13 (p.Asp449Glyfs*21). All three mutations were in homozygous state. They are known and presented in scientific articles and research.

Keywords:Mucopolysaccharidosis type III, enzyme, Sanfilippo syndrome, gene, protein, Heparan N-sulfatase, Heparan acetyl-CоА-glucosamine-N-acetyltransferase