HIGHLIGHTS
SUMMARY
In a patient with isolated familial clubfoot, a microdeletion present in over three generations involving the PITX1 gene was identified. From coding gene regions sequencing and CNV-specific analysis on the genomic regions of the PITX1 and TBX4 genes, respectively, in the cohort of the ICTEV patients, neither a pathogenetic gene mutation nor a pathogenetic CNV was detected. There is substantial evidence in the aetiology of clubfoot of different pathways and/or families of genes, such 6 of 8 as the PITX1-TBX4 axis, the HOX family, the muscle contractile protein, and the caspases . . .
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