[A variant of p.Arg1623Gln of the DYNC1H1 gene in a patient with corpus callosum agenesis, polydactyly, mental development disorder, and neuromuscular system disorders].

encodes the heavy chain of dynein 1, a protein that plays a critical role in intracellular transport and is also involved in neurogenesis, bipolar spindle apparatus formation, and interaction with certain regulatory proteins. Many variants of the gene are described in various neuromuscular, psychoneurological, congenital abnormalities, and malignancies. In this clinical case, the correlation of clinical manifestations with molecular genetic changes of the gene was evaluated.

[The association of single-nucleotide polymorphism rs6265 of the brain-derived neurotrophic factor gene with clinical features in Parkinson's disease].

Objective: To evaluate the frequency and severity of various clinical symptoms of Parkinson's disease (PD) depending on the rs6265 polymorphism.

Material And Methods: The study included 533 patients with PD. The stage of PD was assessed using the Hoehn and Yahr scale (1967), motor symptoms were evaluated with MDS-UPDRS.

Comparision of fluorimetric and mass spectrometric methods for Fabry disease newborn screening.

Fabry disease is an X-linked hereditary lysosomal storage disorder caused by mutations in the GLA gene. Neonatal screening for Fabry disease in males is feasible by measurement of α-galactosidase A activity in DBS using either the mass spectrometric or fluorigenic substrate. The aim of the study: to assess the possibility of introducing the compared methods into the practice of neonatal screening.