| Title: |
Genetic landscape of Kabuki syndrome in Russian patients: spectrum of variants in KMT2D and KDM6A genes ; Генетический ландшафт синдрома Кабуки у российских пациентов: спектр вариантов в генах KMT2D и KDM6A |
| Authors: |
K. G. Zabudskaya; V. V. Zabnenkova; T. B. Cherevatova; M. V. Bulakh; A. A. Orlova; M. D. Orlova; O. L. Mironovich; T. V. Vizerov; F. M. Bostanova; I. V. Anisimova; D. V. Gorodilova; E. A. Shestopalova; N. A. Semenova; A. S. Kuchina; L. A. Bessonova; M. S. Petukhova; N. B. Kuryakova; A. E. Voskanyan; T. V. Markova; G. N. Matyushchenko; O. P. Ryzhkova; К. Г. Забудская; В. В. Забненкова; Т. Б. Череватова; М. В. Булах; А. А. Орлова; М. Д. Орлова; О. Л. Миронович; Т. В. Визеров; Ф. М. Бостанова; И. В. Анисимова; Д. В. Городилова; Е. А. Шестопалова; Н. А. Семенова; А. С. Кучина; Л. А. Бессонова; М. С. Петухова; Н. Б. Курякова; А. Э. Восканян; Т. В. Маркова; Г. Н. Матющенко; О. П. Рыжкова |
| Contributors: |
The study was carried out according to the state assignment of the Ministry of Science and Higher Education of the Russian Federation for the Research Centre for Medical Genetics; Исследование выполнено в рамках государственного задания Министерства науки и высшего образования РФ для ФГБНУ МГНЦ |
| Source: |
Medical Genetics; Том 24, № 8 (2025); 55-58 ; Медицинская генетика; Том 24, № 8 (2025); 55-58 ; 2073-7998 |
| Publisher Information: |
Publishing House «Genius Media» LLC |
| Publication Year: |
2025 |
| Collection: |
Medical Genetics (E-Journal) / Медицинская генетика |
| Subject Terms: |
KDM6A; KMT2D |
| Description: |
Introduction. Kabuki syndrome (KS) is a rare hereditary disorder characterized by developmental delay, hypotonia, and a distinctive facial phenotype resembling the makeup of actors in Japanese Kabuki theater. KS is associated with variants in the KMT2D and KDM6A genes, which are critical for histone modification and embryonic development. Despite numerous international studies, the genetic landscape of KS in Russian patients remains unexplored. Objective: to identify and characterize the spectrum of molecular causes of KS in a Russian cohort of patients. Methods. Next-generation sequencing (NGS) was performed on 37 Russian patients with a clinical diagnosis of KS, including clinical exome sequencing, whole-exome sequencing (WES), and whole-genome sequencing (WGS). Results. Pathogenic or likely pathogenic variants were identified in 22 patients. Seven patients were found to have alternative molecular diagnoses. In KMT2D, 10 frameshift deletions, 4 nonsense variants, 2 in-frame deletions, and 4 missense variants were detected, consistent with global databases. In the KDM6A gene, WES revealed a deletion of exons 3–4, while WGS identified a novel translocation between the X chromosome and chromosome 1 with a breakpoint in intron 28 of KDM6A. Conclusions. The results confirm the previously described spectrum of variants in KMT2D and highlight the predisposition of KDM6A to copy number variations (CNVs) and structural variants. This study enhances the understanding of the molecular etiology of KS and underscores the importance of advanced genomic diagnostic methods. ; Введение. Синдром Кабуки (СК) – редкое наследственное заболевание, основными проявлениями которого являются задержка развития, гипотония и специфический лицевой фенотип, напоминающий грим актеров японского театра Кабуки. СК ассоциирован с вариантами в генах KMT2D и KDM6A, критически важных для модификации гистонов и эмбрионального развития. Несмотря на многочисленные международные исследования, генетический ландшафт СК у российских пациентов остается ... |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/pdf |
| Language: |
Russian |
| Relation: |
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| DOI: |
10.25557/2073-7998.2025.08.55-58 |
| Availability: |
https://www.medgen-journal.ru/jour/article/view/3121; https://doi.org/10.25557/2073-7998.2025.08.55-58 |
| Rights: |
Authors who publish with this journal agree to the following terms:Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access). ; Авторы, публикующие статьи в данном журнале, соглашаются на следующее:Авторы сохраняют за собой автороские права и предоставляют журналу право первой публикации работы, которая по истечении 6 месяцев после публикации автоматически лицензируется на условиях Creative Commons Attribution License , которая позволяет другим распространять данную работу с обязательным сохранением ссылок на авторов оригинальной работы и оригинальную публикацию в этом журнале.Авторы имеют право размещать их работу в сети Интернет (например в институтском хранилище или персональном сайте) до и во время процесса рассмотрения ее данным журналом, так как это может привести к продуктивному обсуждению и большему количеству ссылок на данную работу (См. The Effect of Open Access). |
| Accession Number: |
edsbas.E97D50F6 |
| Database: |
BASE |