DOI: 10.26650/iuitfd.1954591 ISSN: 1305-6441

KABUKI SYNDROME IN A TURKISH COHORT: CLINICAL CHARACTERISTICS AND NOVEL GENETIC VARIANTS

Amine Aktar Karakaya, Akçahan Akalın
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Objective: Kabuki syndrome (KS) is a rare genetic disorder characterized by distinctive facial features, short stature, multisystem anomalies, and intellectual disability. Lysine-specific methyltransferase 2D (KMT2D) variants account for most cases, whereas lysine demethylase 6A (KDM6A) variants are less frequent.Materials and Methods: Ten genetically confirmed KS patients (5 females and 5 males) were retrospectively evaluated at Diyarbakır Children’s Hospital between 2022 and 2024, with assessment of demographic, clinical, growth, developmental, systemic, and genetic characteristics.Results: The mean age at diagnosis was 6.87±4.92 years, the mean gestational age was 37.2±2.25 weeks, and the mean birth weight was 2890±453 g. Heterozygous pathogenic variants in the KMT2D gene were detected in nine patients, while a hemizygous KDM6A variant was detected in one male patient. Five novel variants were detected (four in KMT2D and one in KDM6A). Short stature was observed in 70% of cases, and developmental delay was observed in all patients. Congenital heart disease was detected in 40% of cases, renal anomalies in 30%, feeding difficulties in 40%, and seizures in 40%. One patient received growth hormone (GH) therapy and showed 0.8 SDS height gain within two years.Conclusion: In this study, five new variants were identified in the KMT2D/KDM6A genes. The findings confirm the multisystemic nature of KS and highlight its broad clinical and genetic heterogeneity. The identification of new variants expands the variant spectrum of KS. Early diagnosis and multidisciplinary follow-up are essential to reduce morbidity and optimize patient care.

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