Email this article Kabuki syndrome
- Authors: Kondratenko I.V.1, Suspitsin E.N.2, Vakhlyarskaya S.S.3, Bologov A.A.4, Imyanitov E.N.3
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Affiliations:
- Russian Children’s Clinical Hospital Pirogov Russian National Research Medical University, Moscow
- Petrov National Medical Research Center of Oncology Saint-Petersburg State Pediatric Medical University
- Russian Children’s Clinical Hospital
- Russian Children’s Clinical Hospital Pirogov Russian National Research Medical University
- Issue: Vol 16, No 4 (2017)
- Pages: 75-83
- Section: Статьи
- Submitted: 09.08.2018
- Published: 09.11.2017
- URL: https://hemoncim.com/jour/article/view/12
- DOI: https://doi.org/10.24287/1726-1708-2017-16-4-75-83
- ID: 12
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Abstract
Kabuki syndrome (KS) is a rare inherited disease that consists of a specific morphological changes in the face, short stature, various organ malformations, variable degree of intellectual disability. Mutations in KMT2D gene have been identified as the main cause for KS type 1 (KS type 1 about 70% of patients), whereas mutations in KDM6A gene causes KS type 2 are a much less frequent (less than 5% of patients). Most mutations of KMT2D are private de novo mutations; familial occurrence with an autosomal dominant pattern has also been reported. KS type 2 (caused by mutations in a second gene, KDM6A) has X-linked inheritance. Both genes functioning as epigenetic modulators through histone modifications in the course of embryogenesis and in several biological processes. Different human disorders are caused by mutations of genes involved in the epigenetic regulation, all these share developmental defects, disturbed growth, multiple congenital organ malformations, and also hematological and immunological defects. In particular, most KS patients show increased susceptibility to infections and have reduced serum immunoglobulin levels, while some suffer also from autoimmune manifestations, such as idiopathic thrombocytopenic purpura, hemolytic anemia and other. This article provides a review of the literature and a description of the case report of a patient with genetically confirmed KS type 2, with characteristic phenotypic manifestations, congenital malformations, immunodeficiency and autoimmune cytopenias.
About the authors
I. V. Kondratenko
Russian Children’s Clinical HospitalPirogov Russian National Research Medical University, Moscow
ORCID iD: 0000-0003-4834-4075
Russian Federation
E. N. Suspitsin
Petrov National Medical Research Center of OncologySaint-Petersburg State Pediatric Medical University
ORCID iD: 0000-0001-9764-2090
Saint-Peterburg Russian Federation
S. S. Vakhlyarskaya
Russian Children’s Clinical Hospital
Author for correspondence.
Email: vahlyarskaya@mail.ru
ORCID iD: 0000-0003-0575-2028
MD, pediatrician immunologist
Russia, 119571, Moscow, Leninskii prospect, 117
+7 (495) 935-6412
A. A. Bologov
Russian Children’s Clinical HospitalPirogov Russian National Research Medical University
ORCID iD: 0000-0002-0265-5778
Russian Federation
E. N. Imyanitov
Russian Children’s Clinical Hospital
ORCID iD: 0000-0003-4529-7891
Russian Federation
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