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<p>Kabuki syndrome is a rare disorder characterized by growth retardation, distinctive craniofacial features, intellectual disability, and congenital anomalies that can affect various systems. Disease-causing variants in <i>KMT2D</i> and <i>KDM6A</i>, two genes that regulate transcription via histone modifications, are responsible for most of the cases. We retrospectively reviewed the medical records and molecular studies of eight patients suspected of Kabuki syndrome in four centers in Turkey between 2016 and 2021. We detected eight patients with a definitive diagnosis of Kabuki syndrome. All patients had intellectual disability/developmental delay and some of the distinctive dysmorphic features. Most of the clinical presentations occurred at a frequency similar to the current literature. Seven patients had pathogenic variants in the <i>KMT2D</i> gene, while three variants were previously unreported. One was diagnosed with his characteristic clinical findings. A patient with a novel <i>KMT2D</i> variant had recurrent bone fractures. Kabuki syndrome affects various systems, necessitating a multidisciplinary approach to diagnosis and follow-up. Clinical findings, as well as molecular studies, are valuable in diagnosis. In this study, we clarify the signs and symptoms of the patients and contribute to the molecular spectrum of Kabuki syndrome.</p>

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Multicenter experience of Kabuki syndrome: a case series of eight patients including three novel KMT2D variants and a brief review

  • 期刊论文

  • 发表日期：

    2026年5月9日

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  • Firat Ozcelik,
  • Nilgun Duman,
  • Aslihan Kiraz,
  • Ozlem Oz,
  • Mikail Demir,
  • Alper Dogan,
  • Selcan Ozturk,
  • Dilek Cicek,
  • Gul Direk Trabzon,
  • Yusuf Ozkul,
  • Huseyin Per,
  • Munis Dundar

摘要

Kabuki syndrome is a rare disorder characterized by growth retardation, distinctive craniofacial features, intellectual disability, and congenital anomalies that can affect various systems. Disease-causing variants in KMT2D and KDM6A, two genes that regulate transcription via histone modifications, are responsible for most of the cases. We retrospectively reviewed the medical records and molecular studies of eight patients suspected of Kabuki syndrome in four centers in Turkey between 2016 and 2021. We detected eight patients with a definitive diagnosis of Kabuki syndrome. All patients had intellectual disability/developmental delay and some of the distinctive dysmorphic features. Most of the clinical presentations occurred at a frequency similar to the current literature. Seven patients had pathogenic variants in the KMT2D gene, while three variants were previously unreported. One was diagnosed with his characteristic clinical findings. A patient with a novel KMT2D variant had recurrent bone fractures. Kabuki syndrome affects various systems, necessitating a multidisciplinary approach to diagnosis and follow-up. Clinical findings, as well as molecular studies, are valuable in diagnosis. In this study, we clarify the signs and symptoms of the patients and contribute to the molecular spectrum of Kabuki syndrome.