Endocrine Abstracts

JOINT308

Purpose: Kabuki syndrome is a monogenic genetic disorder affecting multiple systems, with an incidence rate of 1 in 32, 000 to 1 in 86, 000. This study provides a detailed genotype and phenotype analysis of a large longitudinal cohort of Kabuki Syndrome (KS) from a single center in China.

Methods: From July 2017 to July 2024, participants were enrolled at Shanghai Children’s Medical Center. Variants in KMT2D or KDM6A were identified through whole exome sequencing. Phenotype data included prenatal and perinatal history, neonatal, childhood and adolescence evaluations.

Results: A total of 104 KS individuals fullfiled 362 outpatient visits, with an average follow-up of 2. 58 years. Growth curves were plotted based on 545 follow-up height data points. Among the patients, 27. 08% had congenital heart defects (CHD), and 3 patients were identified with anomalous pulmonary venous connection as a new KS phenotype. KS patients showed facial feature heterogeneity, patients with atypical facial features associated with a older diagnosis age and a more diverse and severe phenotype. The Face2gene software correctly identified the facial photographs of all 85 KS patients.

Conclusion: This study offered a comprehensive description of a Chinese KS cohort. And provided the first growth curves for Chinese KS patients and a detailed CHD phenotype spectrum. Our findings also suggest that artificial intelligence (AI) -assisted facial diagnostic criteria will be a valuable in the clinical diagnosis of KS.

Key words: Kabuki syndrome, Growth curves, Congenital heart defects, Artificial intelligence