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The role of exome reanalysis on the way to diagnosis in childhood with congenital anomalies.
https://doi.org/10.25557/2073-7998.2025.12.130-132
Abstract
In Russia in 2022 45900 children aged 0-14 years have congenital malformations (CM), accounting for 3.6% of all live births [1]. Next generation sequencing plays a crucial role in identifying the genetic etiology of CM. In the absence of genetic findings in children with CM, additional clinical symptoms may emerge during careful dynamic observation, enabling reanalysis of exome data. This increases the likelihood of identifying new genotype-phenotype correlations.
Supporting agencies: Pilot project on the application of whole-exome sequencing for selective neonatal screening and early diagnosis in the subjects of the Russian Federation (agreement with the Ministry of Health of Russia dated February 15, 2024, No. 056-02-2024-214).
About the Authors
A. M. Lapshina
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I.Kulakov
Россия
Россия
P. N. Tsabai
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I.Kulakov
Россия
Россия
A. A. Dokshukina
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I.Kulakov
Россия
Россия
E. Shubina
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I.Kulakov
Россия
Россия
D. N. Maslennikov
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I.Kulakov
Россия
Россия
I. O. Sadelov
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I.Kulakov
Россия
Россия
D. Yu. Trofimov
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I.Kulakov
Россия
Россия
References
1. Zdravookhraneniye v Rossii. 2023: Stat.sb./Rosstat [Healthcare in Russia. 2023: Statistical Collection/Rosstat]. Moscow, 2023. 179 p. (In Russ)
2. Suga K., Imoto I., Ito H., et al. Next-generation sequencing for the diagnosis of patients with congenital multiple anomalies and / or intellectual disabilities. J Med Invest. 2020;67(3.4):246-249. doi: 10.2152/jmi.67.246.
3. Alruwaithi M., Sherlock M. A210 Neonatal inflammatory skin and bowel disease caused by a homozygous EGFR mutation: a case report and review of the medical literature. J Can Assoc Gastroenterol. 2018;1(Suppl 1):367–8. doi: 10.1093/jcag/gwy008.211.
4. Takeichi T., Akiyama M. Systemic inflammatory diseases due to germ line EGFR mutations, with features suggestive of autoinflammatory keratinization diseases. J Dermatol. 2021;48(1):e24-e25. doi: 10.1111/1346-8138.15612
Review
For citations:
Lapshina A.M., Tsabai P.N., Dokshukina A.A., Shubina E., Maslennikov D.N., Sadelov I.O., Trofimov D.Yu. The role of exome reanalysis on the way to diagnosis in childhood with congenital anomalies. Medical Genetics. 2025;24(12):130-132. (In Russ.) https://doi.org/10.25557/2073-7998.2025.12.130-132
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