Генетически детерминированный синдром детского церебрального паралича, обусловленный интрагенной делецией гена EBF3

Abstract

Cerebral palsy (CP) is a group of non-progressive disorders of a heterogeneous nature that develop from an early period of neuroontogeny; its clinical manifestation is mainly disturbances in motor development, posture control, and activity limitation. The estimated prevalence of cerebral palsy in developed countries is between 1.0 and 2.3 per 1000 live births. The most common causes of cerebral palsy are hypoxic-ischemic encephalopathy, periventricular leukomalacia, brain malformations, intrauterine infections, and neonatal strokes; however, in up to 20% of patients with cerebral palsy, the etiology remains unspecified. The technological development and the possibility of conducting genomic studies make it possible to identify many genetic factors that are of great importance not only in the cerebral palsy etiology, but also in differentiating genetic syndromes that manifest neuromotor dysfunctions similar to those in cerebral palsy. Mutations at many genetic loci can cause a cerebral palsy-like phenotype. The establishment of an etiological diagnosis is of great clinical importance for optimal treatment. The purpose — to update the need for a genetic examination of patients with severe cerebral palsy and comorbid disorders through the example of our own clinical observation of a family with a genetically determined cerebral palsy syndrome caused by an intragenous deletion of the EBF3 gene. We present our own observation of a family with a genetically determined syndrome of cerebral palsy, three people in which are carriers of an intragenous deletion of the EBF3 gene. A literature review, data from clinical and anamnestic, laboratory, instrumental and genetic research methods are presented. Results. The presented results demonstrate the clinical polymorphism of gene mutations that disrupt transcriptional regulation. Intragenic deletion of the EBF3 gene leads to severe motor disorders that mimic cerebral palsy, manifested by a delay in psychomotor and speech development and in higher brain functions from birth. Conclusion. Timely detection of genetically determined disorders under the guise of cerebral palsy will help to timely establish a diagnosis and refer the family for medical genetic counseling.