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[Kabuki syndrome: Update and review]
M Arnaud1, M Barat-Houari1, V Gatinois1
1Laboratoire des maladies rares et auto-inflammatoires, hôpital Arnaud-de-Villeneuve, CHRU de Montpellier, 34394 Montpellier, France.
Summary
Kabuki syndrome, a rare genetic disorder, is challenging to diagnose due to its varied symptoms. Genetic testing has identified KMT2D and KDM6A genes as key factors, paving the way for better understanding and management.
Area of Science:
- Genetics and Epigenetics
- Developmental Biology
- Rare Disease Research
Context:
- Kabuki syndrome (OMIM: 147920) presents with intellectual disability, dysmorphic features, and developmental abnormalities.
- Clinical diagnosis is complex due to significant heterogeneity in symptoms and presentation.
- Rarer manifestations include endocrinological, autoimmune, and metabolic disorders, complicating management.
Purpose:
- To highlight the diagnostic challenges of Kabuki syndrome.
- To report the identification of KMT2D and KDM6A genes associated with Kabuki syndrome.
- To emphasize the importance of genetic testing for early and accurate diagnosis.
Summary:
- Kabuki syndrome is a rare, heterogeneous disorder with diverse clinical manifestations.
- Exome sequencing identified KMT2D and KDM6A as causative genes, offering new diagnostic avenues.
- Further research into these genes may elucidate epigenetic mechanisms in embryogenesis and development.
Impact:
- Advances in genetic testing, particularly exome sequencing, are crucial for diagnosing Kabuki syndrome.
- Understanding the function of KMT2D and KDM6A can clarify disease pathogenesis.
- Identifying gene interactions may reveal additional candidate genes for unexplained cases, improving patient management.
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