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22대 대한민국 국회 국회정보길라잡이 국회의원검색
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Background: Kabuki syndrome (KS) is a rare disorder characterized by distinctive craniofacial features, developmental delay, short stature, and involvement of multiple organ systems. The genotype–phenotype correlation in KS remains incompletely understood.

Methods: This study aimed to delineate the clinical and genetic spectrum of KS in a cohort of 27 Korean patients. Twenty-seven individuals clinically suspected of KS were evaluated at Pusan National University Children’s Hospital between March 2009 and November 2022. Comprehensive assessments were conducted across multiple systems. Statistical comparisons were performed using the Mann-Whitney U test for continuous variables and Fisher’s exact test for categorical variables (IBM SPSS Statistics v21).

Results: The mean age at diagnosis was 6.90 ± 6.71 years, with an average diagnostic delay of 4.56 ± 5.03 years. All patients exhibited characteristic facial features of KS. Developmental delay was observed in 92.6% of cases, followed by short stature, skeletal and ENT abnormalities (63.0% each), congenital heart disease (59.3%), ophthalmologic issues (51.9%), neurologic and urogenital involvement (48.1% each), immune dysfunction (18.5%), and hematologic malignancy (3.7%). Pathogenic or likely pathogenic KMT2D variants were identified in 23 patients (85.2%), while 4 remained genetically undiagnosed. Among the detected variants, 8 were nonsense, 7 frameshift, 6 missense, 1 splicing, and 1 duplication variant; notably, 18 (78.3%) of these were novel. Patients with pathogenic KMT2D variants were diagnosed at a significantly younger age compared to variant-negative patients (P = 0.05). Those harboring truncating variants exhibited a higher burden of multi-organ involvement compared to individuals with non-truncating variants (4.9 ± 1.4 vs. 3.0 ± 2.3; P = 0.016).

Conclusion: This study broadens the clinical and molecular landscape of Kabuki syndrome in Korean patients.

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