Elizaveta I. Volodyaeva
Head of the Department, Tsaritsyno Rehabilitation Center for the Disabled of the Department of Social Protection of the Population, Russia
Title: Genetic heterogeneity of the hyperkinetic form of cerebral palsy
Biography
Biography: Elizaveta I. Volodyaeva
Abstract
Introduction In more than half of full-term children with a hyperkinetic form of cerebral palsy, it is not possible to identify the etiological factor in the development of the disease.
Patients and methods. Under observation was a girl of 12 years old with a hyperkinetic form of cerebral palsy. The neurological examination, brain MRI and the NGS-based “Inherited Epilepsy” gene panel was performed
Results. Diffuse muscle weakness with subsequently appeared dystonic attacks and facial myokimia presented at birth. At date of examination a girl had also delayed mental and motor development, dysarthria and hypersalivation. Structural pathology was not detected on brain MRI. By NGS-testing a heterozygous mutation c.919G>A in ADCY5 gene was reported. According recommendations of ACMG this variant classified as a variant of uncertain clinical significance. The database of the Genomed laboratory contains information about 5 patients with mutations in the ADCY5 gene. Of these, in one patient the mutation was previously described as pathogenic, causing familial dyskinesia with facial myokymia (OMIM: 606703). For other patients, mutations in the ADCY5 gene are considered as possible causes of the disease and require additional testing.
Conclusion. When confirming the clinical significance of mutations in the ADCY5 gene in the described patient, this clinical case will be a vivid example of allelic genetic heterogeneity. The polymorphism of clinical manifestations in patients with mutations in the same gene confirms the effectiveness of using multi-gene panels in patients with motor disorders.
Key words: cerebral palsy, genes, determinations, next generation sequencing.