De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia

This study investigates a Chinese family with Coffin-Siris syndrome 1 (CSS1) linked to a de novo variation in the ARID1B gene, focusing on a proband with excessive early-onset high myopia. The family, consisting of 4 individuals across 2 generations, presented with various clinical features, including autism, high myopia, and hearing impairment. The proband, a 12-year-old male, exhibited typical CSS1 characteristics such as coarse facial features, intellectual disability, and excessive hair growth. Genetic analysis confirmed a pathogenic ARID1B variant, highlighting its role in CSS1 and associated ocular conditions. This case underscores the genetic complexity of CSS1 and its ocular manifestations.