Clinical and molecular characteristics of Kabuki syndrome patients with missense variants-novel features and literature review.

ABSTRACT: Kabuki Syndrome (KS) encompasses a spectrum of clinical manifestations, primarily attributed to pathogenic variants in the KMT2D gene. This study aims to elucidate novel features in KS patients with missense variants, contrasting their presentation with both literature-reported cases of patients with missense pathogenic variants as well as other KS patients with truncating pathogenic variants. Employing a survey questionnaire and clinical evaluations, we examined ten KS patients with missense variants, focusing on their dysmorphism characteristics, behavior and psychomotor development. We identified unique features in missense variant patients, including foot hyperesthesia, musicality, and sensory integration disorders. Notably, despite similarities in developmental trajectories, di

SUBMITTER: Boniel S 

PROVIDER: S-EPMC11298422 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature