Mutations in Frizzled Class Receptor 4 Associated With Congenital Cavus Foot Deformity

Abstract

BackgroundCongenital cavus foot deformity (CFD) (congenital =present at birth) is a disease very disabling that could connected to the mobility, neurologic entities and the imbalance of synergistic intrinsic and extrinsic muscles of the patients, and the problem is even dynamic (often progressive). Here, we report the clinical and radiographic manifestations of one Chinese Han congenital CFD family and 23 congenital CFD patients. In the congenital CFD family, the proband’s mother and brother are also CFD patients. ResultsWe performed whole-exome sequencing for three patients and two healthy people in this family, and sequenced the Frizzled Class Receptor 4 (FZD4) for the other. One novel FZD4 mutation (exon2 c.1589G>A; p.G530E, NM_012193) was identified. Then mutations in FZD4 gene were further examined in 23 congenital CFD patients, and also find FZD4 mutation (FZD4:NM_012193:exon1:c.205C>T:p.H69Y) in one congenital CFD patient. ConclusionsOur study suggested that the congenital cavus foot deformity might be associated with the identified mutations in FZD4.