Clinical delineation and genotype-phenotype correlation in 104 children with kabuki syndrome: A single-center, cross-sectional and follow-up study in China.

ABSTRACT: This study provides a detailed genotype and phenotype analysis of a large longitudinal cohort of Kabuki Syndrome (KS) from a single center in China. 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. A total of 104 KS individuals fullfiled 362 outpatient visits, with an average follow-up of 2.58 years and a median follow-up time of 1.75 years. Growth curves were plotted based on 433 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 patient

SUBMITTER: Wang Y 

PROVIDER: S-EPMC11950074 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature