Study of fabry disease genetics in Lenkoran-Astara economic region (Azerbaijan)

Goal of our studies is to study genetics of Fabry disease for the population of Lenkoran-Astara Economic Region of Azerbaijan Republic. Patients were from the following areas of the districts: 16 persons from Astara, 33 from Masally, 17 from Lenkoran and 10 from Lerik. Alpha-galactosidase A enzyme activity and globotriasylsfingosine (lyso-Gb3, Lyso-GL3) quantitative identification were done with liquid mass-spectroscopy method. GLA gene in DNA samples was studied with new generation sequencing (NGS). Identified mutation is (NM_000169.2:c.801+3A>G). According to the Guidelines of ACMG* mutation identified NM_000169.2:c.801+3A>G is classified as pathogenic class 1.