Genetic analysis of Han-Chinese patients with isolated congenital ptosis

The novel heterozygous <i>ZFHX4</i> variants are identified as disease-associated variants in three patients with ptosis, suggesting that <i>ZFHX4</i> may be a disease-causing gene for autosomal dominant ICP with incomplete penetrance or a susceptibility gene. These findings expand the variant spectrum of <i>ZFHX4</i>, improve understanding of the pathogenesis of <i>ZFHX4</i>-related ptosis, and may contribute to the genetic counseling and disease management, as well as the development of experimental treatments.