MOSCOW, May 2. Genetic “signals” about deviations in mental and speech development, as well as congenital heart defects in children, were discovered by SSMU scientists as part of a scientific team. The information obtained, according to scientists, will help examine young patients and their parents in order to plan the birth of the next children in the family. The results of the study were published in the Russian Bulletin of Perinatology and Pediatrics.
In modern children, congenital heart defects are more common than other malformations of internal organs and are one of the main causes of child mortality. Most often, heart defects are observed with chromosomal abnormalities, for example, with Down, Edwards, and Patau syndromes. According to most researchers, in 10–20% of cases, heart defects are caused by genetic “breakdowns,” said specialists from the Saratov State Medical University. IN AND. Razumovsky (SSMU).
They noted that congenital heart defects require cytogenetic and molecular genetic examination of sick children and their parents, especially in combination with defects of other organs and mental retardation. Today, in such cases, the method of chromosomal microarray analysis of genetic material is mainly used. However, according to university experts, it has a number of disadvantages.
Scientists from SSMU with colleagues from the Russian National Research Medical University. N.I. Pirogov, with the support of the NGO “Charity Fund for Medical and Social Genetic Assistance Projects “Genome of Life”, identified mutations in genes responsible for the development of heart defects and other organs by deciphering the complete genome.
It is with this approach, according to researchers, that it is possible to in most cases, to determine whether the congenital pathology is genetic in order to plan the birth of the next children in the family.
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“To identify the genetic causes of the disease, we conducted complete genome sequencing in children with heart defects and their parents. More than 80% of the children examined had delayed psycho-speech development along with heart defects. As a result, we discovered pathogenic variants in 13 different genes,” said Olga Gumenyuk, Associate Professor of the Department of Hospital Pediatrics and Neonatology of SSMU.
Scientists also performed a complete genetic analysis for parents of children with developmental disabilities. The result showed that the vast majority of children did not inherit the mutations from their parents.
«We established the causes of both cardiac malformations and deviations in mental and speech development and made an optimal routing of patients. Parents now have the opportunity predict further births of healthy children,” said Gumenyuk.
Whole genome research makes it possible to make a diagnosis more effectively, and doctors need to take this into account when referring patients for genetic studies, she added.
The SSMU research is being implemented within the framework of the Russian state university support program «Priority- 2030» national project «Science and Universities».