Abstract :
Background: Club foot is a very common and serious birth defect affecting one of every 1000 live births. Substantial progress has been achieved in the management and diagnosis of limb defects; however, not much is known about the genetic basis underlying talipes equino varus disorder. This study was undertaken to find out the prevalence of single nucleotide polymorphisms in PITX1 gene that are associated with isolated clubfoot babies in Indian population.
Materials and Methods: The study was done at Institute of Orthopaedics and Traumatology (IOT), Multidisciplinary Research Unit (MRU) Coimbatore Medical College and Hospital during the period of December 2019 to June 2020 after ethical committee clearance. Fifty isolated clubfoot babies were included in the study group of which 32 were male and 18 were female.23 babies had bilateral club foot, 18 had right sided and 9 had left sided club foot.
Results: The Chr5:135031277 C>T type mutation is 2.26 times more likely to happen than the Chr5:135031290 C>T mutation group in Indian population. The z-statistics which tested the odds ratio is 1.992 which is significant as the probability is less than 0.05 (P=0.0463).
Conclusion: A larger multicenteric study should be conducted in other regions of India to prepare more specific gene to be associated with club foot. We hope this study will encourage future studies and aid in improving the genetic knowledge of club foot in India.
Keyword :
Club foot, PITX1 gene, Single nucleotide polymorphism, Talipes equino varus.