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Molecular mechanisms and genetic factors contributing to the developmental dysplasia of the hip

Xiaoming Zhao1, Shuai Liu2, Zhonghua Yang3,4

  • 1Department of Pediatric Orthopaedics, Shenyang Orthopaedic Hospital, Shenyang, China.

Frontiers in Genetics
|August 19, 2024
PubMed

Insights

Developmental dysplasia of the hip (DDH) is a common neonatal condition. Genetic factors and gene variations are increasingly recognized as key contributors to DDH development and susceptibility.

Area of Science:

  • Genetics
  • Orthopedics
  • Developmental Biology

Background:

  • Developmental dysplasia of the hip (DDH) is the most common hip disease in neonates.
  • Accurate diagnosis and timely treatment are crucial for pediatric patients with DDH.
  • Genetic factors are increasingly implicated in the pathogenesis of DDH.

Purpose of the Study:

  • To review recent molecular mechanisms and genetic factors contributing to DDH.
  • To highlight the role of gene variation and heredity in DDH susceptibility.
  • To summarize findings from genetic studies in DDH.

Main Methods:

  • Genome-wide association studies (GWAS)
  • Genome-wide linkage analyses (GWLA)
  • Exome sequencing (ES)
  • Analysis of animal models with DDH phenotypes
  • Identification of noncoding RNAs and de novo gene variants

Main Results:

  • Numerous genes and single-nucleotide polymorphisms (SNPs) associated with DDH susceptibility have been identified.
  • DDH phenotypes are observed in animal models with specific genetic variants (e.g., CX3CR1, KANSL1, GDF5).
  • Noncoding RNAs and de novo gene variants contribute to DDH-related syndromes.

Conclusions:

  • Genetic factors play a significant role in the pathogenesis of DDH.
  • Advances in genetic research have enhanced the understanding of DDH etiology.
  • Further research into genetic mechanisms is essential for improving DDH diagnosis and treatment.

Keywords:
CX3CR1GDF5developmental dysplasia of the hipsingle-nucleotide polymorphismssusceptibility gene

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