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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Genetic Role in Recurrence of Idiopathic CTEV: A Systematic Review

Hilmi Muhammad1,2, Sofia Mubarika Haryana2, Rahadyan Magetsari1,2

  • 1Department of Surgery, Orthopaedics and Traumatology Division, Sardjito General Hospital, Yogyakarta, Indonesia.

Orthopedic Research and Reviews
|March 17, 2023
PubMed

Insights

Genetic factors in recurrent clubfoot (Congenital Talipes Equinovarus) are poorly understood. This review highlights the limited research, emphasizing the need for more studies on the genetic causes of idiopathic CTEV relapse.

Area of Science:

  • Orthopedics
  • Genetics
  • Pediatrics

Background:

  • Congenital Talipes Equinovarus (CTEV), or clubfoot, is a common birth defect affecting 1 in 1000 infants globally.
  • Idiopathic CTEV (ICTEV) may have a genetic component, potentially linked to treatment resistance.
  • The genetic basis of recurrent ICTEV remains largely undetermined.

Purpose of the Study:

  • To systematically review existing literature on genetic factors in recurrent ICTEV.
  • To understand the etiology of clubfoot relapse through genetic analysis.

Main Methods:

  • A comprehensive literature search was conducted across major medical databases (PubMed, Scopus, Cochrane Library, European PMC) following PRISMA 2020 guidelines.
  • Studies included those with genetic analysis (whole-genome sequencing, WES, PCR, Western blot) of recurrent ICTEV or CTEV of unknown cause.
  • Exclusion criteria: non-English studies, reviews, irrelevant articles. Quality assessment used the Newcastle-Ottawa Scale.

Main Results:

  • Only three relevant studies were included in this systematic review.
  • Two studies focused on genetic involvement in CTEV occurrence, and one examined protein types.
  • The limited number of studies precluded quantitative analysis, restricting findings to qualitative discussion.

Conclusions:

  • This systematic review underscores the scarcity of research into the genetic etiology of recurrent ICTEV.
  • The findings highlight a significant gap in current knowledge regarding the genetic underpinnings of clubfoot relapse.
  • Further research is crucial to elucidate the genetic factors contributing to recurrent idiopathic CTEV.
Abstract

Keywords:
clubfootgeneticsidiopathic CTEVidiopathic clubfootrecurrent

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