The heterogeneous genetic architectures of orofacial clefts

Trends Genet. 2024 Mar 13:S0168-9525(24)00031-3. doi: 10.1016/j.tig.2024.02.004. Online ahead of print.ABSTRACTOrofacial clefts (OFCs) are common, affecting 1:1000 live births. OFCs occur across a phenotypic spectrum - including cleft lip (CL), cleft lip and palate (CLP), or cleft palate (CP) - and can be further subdivided based on laterality, severity, or specific structures affected. Herein we review what is known about the genetic architecture underlying each of these subtypes, considering both shared and subtype-specific risks. While there are more known genetic similarities between CL and CLP than CP, recent research supports both shared and subtype-specific genetic risk factors within and between phenotypic classifications of OFCs. Larger sample sizes and deeper phenotyping data will be of increasing importance for the discovery of novel genetic risk factors for OFCs and various subtypes going forward.PMID:38480105 | DOI:10.1016/j.tig.2024.02.004

Source: Trends in Genetics : TIG - March 13, 2024 Category: Genetics & Stem Cells Authors: Kelsey Robinson Sarah W Curtis Elizabeth J Leslie Source Type: research