Table 2.

The Pathogenesis of PRS in Syndromic Patients with PRS

The Syndrome and Its Gene Mutation	The Pathogenesis through SOX9 Interactions
Strickler syndrome type I (Col2A1 which encodes collagen II)	SOX9 interacts and modulates collagen type II (the main collagen in cartilage) in the development of the mandibular cartilage
Richieri-Costa–Periera syndrome (EIF4A3, part of the EJC)	SOX9 interacts with EJC (which includes EIF4A3)
Catel–Manzke syndrome (TGDS)	TGDS is involved in glucose metabolism. Glucose regulates chondrogenic differentiation of the mandibular cartilage via O-GlcNAcylation of SOX9
Acampomelic/campomelic dysplasia (SOX9)	SOX9 is the key player in mandibular chondrogenesis
TARP syndrome (RBM10)	Both RBM10 and SOX9 are highly expressed and interact with each other in the developing mandible
Cerebro-costo-mandibular syndrome (SNRPB)	Both SNRPB and SOX9 participate in the spliceosomal machinery