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Analysis of the phenotypic diversity of Kabuki type 1 syndrome depending on the genetic variant
https://doi.org/10.25557/2073-7998.2025.07.84-88
Abstract
Introduction. Сurrently, the task of modern medicine is to study the relationship between the clinical picture of patients and the data of a molecular genetic examination.
Aim. Analysis of the phenotypic diversity of Kabuki type 1 syndrome depending on the genetic variant. The study included 21 patients with Kabuki syndrome type 1.
Results. Depending on the type of genetic variant, patients were divided into 3 groups: group 1 –nonsense variants (n = 13 (61.9%)), group 2 – variants leading to a shift in the reading frame (n = 6 (28.6%)), group 3 – variants of the splicing site (n = 2 (9.5%)). As a result of the analysis of patients with Kabuki syndrome type 1 it was found that immunodeficiency is significantly more common among patients in the group of free-shift variants compared to children from the group of nonsense variants. For the first time it was discovered that nephrocalcinosis is diagnosed in a high number of patients (33.3%). The study revealed a patient with Kabuki syndrome, type 1 and infantile hypercalcemia, type 1, which poses significant obstacles for the prognosis of the development of severe nephrological complications.
About the Authors
V. M. Popova
Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery
Russian Federation
Russian Federation
10-1, Fotieva st., 10, Moscow, 119333
N. V. Zhurkova
Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery
Russian Federation
Russian Federation
10-1, Fotieva st., 10, Moscow, 119333
N. D. Vashakmadze
Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery
Russian Federation
Russian Federation
10-1, Fotieva st., 10, Moscow, 119333
M. A. Babaikina
Research Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery
Russian Federation
Russian Federation
10-1, Fotieva st., 10, Moscow, 119333
References
1. Murakami H., Tsurusaki Y., Enomoto K., et al. Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome. Am. J. Med. Genet. Part A. 2020;182:2333–2344. doi: 10.1002/ajmg.a.61793.
2. Baldridge D., Spillmann R.C., Wegner D.J., et al. Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome. Am. J. Med. Genet. Part A. 2020;182:1053–1065. doi: 10.1002/ajmg.a.61518.
3. Frediani T., Lucarelli S., Bruni L. Niikawa-Kuroki (Kabuki) syndrome in two siblings. Minerva Pediatr. 2001;53:43–48.
4. Barry K.K., Tsaparlis M., Hoffman D., et al. From Genotype to Phenotype-A Review of Kabuki Syndrome. Genes (Basel). 2022;13(10):1761. doi: 10.3390/genes13101761.
5. Yoon J.H., Hwang S., Bae H. et al. Clinical and molecular characteristics of Korean patients with Kabuki syndrome. J Hum Genet. 2024; 69: 417–423.
6. Adam M. Insights into the molecular genetics of Kabuki syndrome. Advances in Genomics and Genetics. 2015;5:121-129. https://doi.org/10.2147/AGG.S58588
Review
For citations:
Popova V.M., Zhurkova N.V., Vashakmadze N.D., Babaikina M.A. Analysis of the phenotypic diversity of Kabuki type 1 syndrome depending on the genetic variant. Medical Genetics. 2025;24(7):84-88. (In Russ.) https://doi.org/10.25557/2073-7998.2025.07.84-88
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