We performed ES in a family affected by an autosomal dominant form of congenital patellar dislocation, and we identified the novel frameshift variant c.735delT in the TBX4 gene in all affected family members (II-2, III-2, III-3) and confirmed its presence by Sanger sequencing in the proband’s brother (III-1) and paternal aunt (II-1). Here, TBX4 is linked to dislocation.