The correlation between Paired-like homeodomainl (PITX1) gene mutation and congenital talipes equino-varus

Objective To investigate the relationship between Paired-like homeodomain1 (Pitx1)gene mutation and congenital talipes equinovarus (CTEV).Methods Pitx1 gene of gastrocnemius muscles was detected using RT-PCR assay in 55 patients with CTEV(CTEV group) and 34 normal children (control group).The gene sequencing of Pitx1 was performed and the data was analyzed using Blast software.All the data were statistically analyzed by Chi-square test.Results Fourteen out of 55 patients had the Pitx1 gene mutation with the guanine replaced by a adenine at the 781st base,while no mutation was found in the control group (x2 =10.27,P＜0.05).In 14 patients with the gene mutation,7 had bilateral clubfoot,6 had right clubfoot and the other 1 had left clubfoot.Conclusions The Pitx1 gene mutation may be involved in the pathogenesis of CTEV. Key words: Clubfoot;  Genes;  Mutation