The heterogeneous genetic architectures of orofacial clefts.
Trends Genet
; 40(5): 410-421, 2024 May.
Article
em En
| MEDLINE
| ID: mdl-38480105
ABSTRACT
Orofacial clefts (OFCs) are common, affecting 11000 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.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Fenda Labial
/
Fissura Palatina
Limite:
Humans
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article