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Updated: May 12, 2026

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Clinical Characteristics and Whole Exome Sequencing Analysis in Serbian Cases of Clubfoot Deformity-Single Center

Filip Milanovic1,2, Sinisa Ducic1,2, Milena Jankovic2,3

  • 1Pediatric Surgery Department, University Children's Hospital, 11000 Belgrade, Serbia.

Children (Basel, Switzerland)
|June 27, 2024
PubMed

Insights

Genetic mutations are linked to clubfoot in Serbian children, particularly in families with a history of the condition. This finding aids in developing better genetic diagnostic strategies for pediatric clubfoot.

Area of Science:

  • Pediatric Orthopedics
  • Clinical Genetics
  • Musculoskeletal Disorders

Background:

  • Clubfoot is a common congenital musculoskeletal deformity affecting 1-2 per 1000 newborns.
  • Etiopathogenesis is multifactorial, involving genetic and environmental factors.
  • 80% of clubfoot cases are idiopathic; 20% are associated with other malformations.

Purpose of the Study:

  • To investigate genetic causes of isolated and syndromic clubfoot in Serbian children.
  • To correlate clinical and genetic findings for insights into clubfoot etiopathogenesis.
  • To contribute to global knowledge of genetically defined clubfoot disorders.

Main Methods:

  • Whole exome sequencing (WES) was used to identify genetic mutations.
  • 50 pediatric patients (ages 3-16) with clubfoot were evaluated.
  • Clinical data included gender, age, deformity degree, family history, and maternal smoking.

Main Results:

  • Seven patients (14%) tested positive for genetic mutations.
  • A significant association was found between confirmed genetic mutations and a positive family history of clubfoot (p=0.023).

Conclusions:

  • This study expands the understanding of clubfoot's genetic epidemiology.
  • Findings support the development of genetic diagnostic strategies for pediatric clubfoot.
  • Early genetic diagnosis can lead to more efficient management of clubfoot.
Abstract

Keywords:
CNVFLNBFOXP1TRPV4clubfootwhole exome sequencing

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