What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study.

ABSTRACT: Congenital clubfoot is a common pediatric malformation that affects approximately 0.1% of all births. 80% of the cases appear isolated, while 20% can be secondary or associated with complex syndromes. To date, two genes that appear to play an important role are PTIX1 and TBX4, but their actual impact is still unclear. Our study aimed to evaluate the prevalence of pathogenic variants in PITX1 and TBX4 in Italian patients with idiopathic clubfoot. PITX1 and TBX4 genes were analyzed by sequence and SNP array in 162 patients. We detected only four nucleotide variants in TBX4, predicted to be benign or likely benign. CNV analysis did not reveal duplications or deletions involving both genes and intragenic structural variants. Our data proved that

SUBMITTER: Bianco AM 

PROVIDER: S-EPMC9690101 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature