Case Report: Pre- and post-natal evolution of Kabuki Syndrome due to a novel genetic mutation [version 1; peer review: awaiting peer review]

• Published in: F1000 research Vol. 13; p. 406
• Main Authors: Souayeh, Nesrine, MARZOUK, Asma, Jelalia, Nour, BEN AYED, Ikhlas, Ziadi, Alaa, TRABELSI, Madiha, Bouaziz, Asma, Hsayaoui, Najeh
• Format: Journal Article
• Language: English
• Published: 2024
• Subjects: mutation; Kabuki syndrome; case report; exome; genetic study; intellectual disability
• ISSN: 2046-1402; 2046-1402
• DOI: 10.12688/f1000research.144099.1

Kabuki syndrome is a rare condition characterized by intellectual disability, poly-malformative syndrome, and distinctive facial dysmorphia. It also exhibits clinical and biological heterogeneity, with rare and diverse symptoms. Genetic analysis plays a significant role in both positive diagnosis and prognosis. Recently, whole exome sequencing has identified several genes responsible for the disease, notably KMT2D and KDM6A. Studying new mutations in this disease will contribute to understanding the role of these genes in the pathogenesis of Kabuki syndrome. We report a case of a 9-and-a-half-year-old boy, born to non-consanguineous parents, diagnosed with Kabuki syndrome. This article describes the prenatal diagnosis process and the postnatal progression. Genetic analysis revealed a novel missense point mutation in the KMT2D gene, classified as a class 4 missense mutation, responsible for Kabuki syndrome.