Genetic models and approaches to study orofacial clefts

Area of Science:

• Genetics
• Developmental Biology
• Human Genetics

Background:

• Orofacial clefts (OFCs) are common craniofacial birth defects with complex and varied causes.
• Genetic research has extensively explored the etiology of OFCs using diverse methodologies.

Purpose of the Study:

• To review the genetic evidence for orofacial clefts.
• To describe statistical genetic approaches used in OFC research.
• To summarize current understanding of genetic architectures in syndromic and nonsyndromic OFCs.

Main Methods:

• Review of genetic studies on orofacial clefts.
• Analysis of statistical genetic approaches.
• Examination of findings from large-scale genetic data collections.

Main Results:

• Significant progress in elucidating OFC genetic architectures.
• Identification of rare and common variants influencing OFC risk.
• Blurring of distinctions between Mendelian and complex OFC forms.

Conclusions:

• Advances in genetic studies are rapidly clarifying OFC etiology.
• Genetic variants impact both syndromic and nonsyndromic OFCs.
• New findings challenge traditional classifications of OFCs.