MOLECULAR CHARACTERISTICS OF SANFILIPPO SYNDROME IN PATIENTS FROM AZERBAIJAN REPUBLIC

Abstract

First time in Azerbaijan Republic we carried out medical-genetic study of four patients with Sanfilippo syndrome (Mucopolysaccharidosis Type III) and their family members.
Goal of this research was Sanfilippo syndrome genetic heterogeneity study. Experimental material was collected year 2018 through year 2023. Affected children from specialized medical centers in Baku city and Gyandzhe, as well as during field works in Republic’s regions were examined. 56 patients among many were suspicious for lysosomal disease as Mucopolysaccharidosis. Four patients corresponded with Sanfilippo syndrome.
Molecular analysis of genes SGSH (А), NAGLU (В), HGSNAT (С), GNS (D) with Sanger technique allowed identification of the following mutations: SGSH gene: NM_000199 c.7_16del, p.Cys3ProfsTer9 (A type); NAGLU gene: NM_c.389 GC, p.Arg130Pro (B type); two mutations of HGSNAT gene: NM_152418.2, c.852-1G-A in intron 9 and c.1345dup, p.Asp449Glyfs*21, in exon 13 (C type). All identified mutations were in homozygous state. In the ClinVar® list those mutations are registered as pathogenic. Consequently, parents of the patients were consanguinity of first cousin type. Patient with с.1345dup variant type was identified with heterozygous carriage type of be ta-thalassemia (HBB gene: с.118С>T (p.Gln40Ter).