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

Alizada Sevda Aydin  (PhD, Azerbaijan Medical University, г. Baku)

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
 

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Citation link:
Alizada S. A. Mucopolysaccharidosis type III (Sanfilippo syndrome) genetics for children from Azerbaijan // Современная наука: актуальные проблемы теории и практики. Серия: Естественные и Технические Науки. -2022. -№07/2. -С. 5-8 DOI 10.37882/2223-2966.2022.07-2.01
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