Table 1 Abnormalities caused by mutation of JAK-STAT signaling
From: JAK-STAT signaling: molecular mechanism and targeted treatment in dento-maxillofacial abnormalities
Gene | Disorder | Inheritance | OMIM number | Effects on JAK-STAT signaling | Phenotype | Reference |
|---|---|---|---|---|---|---|
STAT3 | Hyper-IgE Syndrome 1(HIES) | AD | 147060 | STAT3 dimerization decreased in all cells | Facial asymmetry, prominent forehead, mild mandibular prognathism, high palatal arch, and retention of deciduous teeth. | |
STAT3 Gain-of-function Syndrome | AD | 615952 | STAT3 phosphorylation increased in all cells | Prominent forehead, characteristic round facies with cupped ears, dental anomalies. | ||
STAT5B | Growth Hormone Insensitivity Syndrome with Immune Dysregulation1 | AR | 245590 | STAT5B truncated and inactive in all cells | Prominent forehead, depressed nasal bridge. | |
Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2 | AD | 618985 | STAT5B unable to nuclear localize or bind to DNA elements | Microcephaly | ||
STAT6 | Hyper-IgE Syndrome 6 | AD | 620532 | STAT6 phosphorylation increased in all cells | Mild high palate arch, joint hyperextensibility, enamel hypoplasia, normal dentition without delay shedding in decidual teeth, severe growth retardation |
