Whole exome sequencing in patients with blepharophimosis, ptosis, and epicanthus inversus syndrome

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a rare autosomal dominant inherited disorder that is primarily caused by genetic mutations. However, the correlation between genotypes and clinical phenotypes remains unclear. This study aimed to identify mutations in a Chinese family with BPES and further functional validation. Moreover, we elucidate the genotype-phenotype correlation based on previous studies.