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Related Experiment Videos

Recent developments in orofacial cleft genetics.

Francesco Carinci1, Furio Pezzetti, Luca Scapoli

  • 1Maxillofacial Surgery, School of Medicine, Center of Molecular Genetics, CARISBO Foundation, and Institute of Histology and General Embryology, School of Medicine, University of Bologna, Italy. crc@unife.it

The Journal of Craniofacial Surgery
|March 7, 2003
PubMed
Summary

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Nonsyndromic orofacial clefts result from embryonic developmental failures. Research explores the complex genetic and environmental factors contributing to these common birth defects, including cleft lip and palate (CL+/-P) and cleft palate only (CPO).

Area of Science:

  • Developmental Biology
  • Genetics
  • Public Health

Background:

  • Nonsyndromic cleft lip and/or palate (CLP), or orofacial cleft, is a common birth defect caused by embryonic developmental failures.
  • This condition encompasses two distinct entities: cleft lip and palate (CL+/-P) and cleft palate only (CPO).
  • Both CL+/-P and CPO have genetic underpinnings, with environmental factors likely playing a role in their manifestation.

Purpose of the Study:

  • To review and discuss current research findings on the genetic and environmental etiology of nonsyndromic CLP.
  • To highlight the complexity arising from the genetic heterogeneity within CL+/-P and CPO subgroups.
  • To synthesize results from diverse research methodologies investigating CLP.

Main Methods:

  • Epidemiological studies to assess prevalence and risk factors.

Related Experiment Videos

  • Animal models to investigate genetic mechanisms and developmental processes.
  • Human genetic studies, including linkage and association analyses.
  • In vitro studies to explore cellular and molecular pathways.

    • Main Results:

    • Several genetic loci have been identified for CL+/-P, with a specific gene identified in one instance.
    • One gene has been identified for CPO, but numerous other genes are likely involved.
    • The genetic architecture of nonsyndromic CLP is complex, involving multiple genes and environmental interactions.

    Conclusions:

    • Understanding the genetic basis of nonsyndromic CLP requires considering the distinct etiologies of CL+/-P and CPO.
    • The heterogeneity within these conditions necessitates diverse research approaches.
    • Further research integrating epidemiological, genetic, and experimental data is crucial for unraveling CLP development.