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ORIGINAL RESEARCH article

Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1402531
This article is part of the Research Topic Rare Diseases Research and Diagnosis in Low- and Middle-Income Countries View all 32 articles

Clinical and molecular characteristics of Kabuki syndrome patients with missense variantsnovel features and literature review

Provisionally accepted
Snir Boniel Snir Boniel 1Maria Krajewska Maria Krajewska 2*Beata Ewa Pyrżak Beata Ewa Pyrżak 2Monika Paluchowska Monika Paluchowska 2*Magdalena Zarlenga Magdalena Zarlenga 3*Katarzyna Krenke Katarzyna Krenke 4*Robert Smigiel Robert Smigiel 5Anetta Jeziorek Anetta Jeziorek 6*Krystyna Szymańska Krystyna Szymańska 7*Krzysztof Szczałuba Krzysztof Szczałuba 1*
  • 1 Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland
  • 2 Department of Pediatrics and Endocrinology, Medical University of Warsaw, Warsaw, Masovian, Poland
  • 3 Department of Neonatology, Faculty of Health Science, Medical University of Warsaw, Warsaw, Masovian, Poland
  • 4 Clinic for Pediatric Pneumonology and Allergy, Medical University of Warsaw, Warsaw, Masovian, Poland
  • 5 Department of Family Medicine, Wroclaw Medical University, Wroclaw, Poland
  • 6 Medical University of Warsaw, Warsaw, Masovian, Poland
  • 7 Department of Child Neurology, Medical University of Warsaw, Warsaw, Masovian, Poland

The final, formatted version of the article will be published soon.

    Kabuki Syndrome (KS) encompasses a spectrum of clinical manifestations, primarily attributed to pathogenic variants in the KMT2D gene. This study aims to elucidate novel features in KS patients with missense variants, contrasting their presentation with both literature-reported cases of patients with missense pathogenic variants as well as other KS patients with truncating pathogenic variants. Employing a survey questionnaire and clinical evaluations, we examined ten KS patients with missense variants, focusing on their dysmorphism characteristics, behavior and psychomotor development. We identified unique features in missense variant patients, including foot hyperesthesia, musicality, and sensory integration disorders. Notably, despite similarities in developmental trajectories, distinct phenotypic traits emerged in missense variant cases, suggesting a potential genotype-phenotype correlation. These findings contribute to a deeper understanding of KS heterogeneity and underscore the importance of genotype-specific characterization for prognostic and therapeutic considerations. Further exploration of genotype-phenotype relationships promises to refine clinical management strategies and enhance patient outcomes in this complex syndrome.

    Keywords: Kabuki syndrome, missense variant, Genotype, phenotype, Behavior, development

    Received: 17 Mar 2024; Accepted: 13 Jun 2024.

    Copyright: © 2024 Boniel, Krajewska, Pyrżak, Paluchowska, Zarlenga, Krenke, Smigiel, Jeziorek, Szymańska and Szczałuba. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Maria Krajewska, Department of Pediatrics and Endocrinology, Medical University of Warsaw, Warsaw, 02-091, Masovian, Poland
    Monika Paluchowska, Department of Pediatrics and Endocrinology, Medical University of Warsaw, Warsaw, 02-091, Masovian, Poland
    Magdalena Zarlenga, Department of Neonatology, Faculty of Health Science, Medical University of Warsaw, Warsaw, Masovian, Poland
    Katarzyna Krenke, Clinic for Pediatric Pneumonology and Allergy, Medical University of Warsaw, Warsaw, 02-091, Masovian, Poland
    Anetta Jeziorek, Medical University of Warsaw, Warsaw, 02-091, Masovian, Poland
    Krystyna Szymańska, Department of Child Neurology, Medical University of Warsaw, Warsaw, Masovian, Poland
    Krzysztof Szczałuba, Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.