Genetıc Study of Krabbe Lysosome Metabolıc Dısease

We studied blood samples of identical twins who are girls suspicious of the lysosome metabolic disease. For diagnostics goal we used New Generation Sequencing – NGS method and diagnostic amplicon panel. Diagnostic panel represents primers for the following diseases: Krabbe disease, mucopolysaccharidosis Type II (Hanter disease), Niemann-Pick disease, mucopolysaccharidosis Type IV (Morquio disease), Fabry disease, multiple sulfatase deficit, Gaucher disease, gangliosidase, mucopolysaccharidosis Type 1 (Gurler disease), mucopolysaccharidosis Type VII (Leya disease), and juvenile Parkinson disease. In studied material when analyzing GALC gene with molecular-genetic methods there was substitution of one nucleotide fragment GTCAG of c.1834 in intron 15 with another nucleotide fragment AGTCAC and that was identified (c.1834 GTCAG>AGTCAC). There is no information about this mutation in the world scientific literature. This is for the first time that this mutation of GALC gene was found in Azerbaijani children.