Abstract
In one of the regions of Azerbaijan Republic while clinic examination with doctor-pediatrician, doctor-neurologist and doctor-geneticist a girl of 5 years of age was identified as suspicious of mucopolysaccharidosis. N-acetyl-galactosamin-6-sulfatase enzyme analysis has shown low activity of 0,1 μmol/L at norm of >0,2 μmol/L/h. Molecular-genetic analysis of GALNS gene identified substitution of Adenine nucleotide with Guanine nucleotide in 1283 (с.1283 A>G) position accompanied with amino acid change Gln428Arg (Morquio A; OMIM®: 253000). These results correspond to the presence of MPS IVA type. With the consent of both parents and at the term of 16-17-week pregnancy transabdominal amniocentesis was carried out. At the level of DNA, isolated from fibroblasts from amniotic liquid, we have got heterozygous carriage of a с.1283 A>G mutation of GALNS gene, that says of a healthy fetus. We plan to carry out prenatal diagnostics to all families of reproductive age, who have got affected children diagnosed with MPS.
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