Table 1 Transcription factor genes responsible for thyroid dysgenesis
Gene | Locus | Type of inheritance | Expression | Clinical manifestation |
|---|---|---|---|---|
PAX8 | 2q13 | AD | Thyroid, kidney, CNS | Thyroid hypoplasia or athyreosis, agenesis/hemiagenesis of the kidneys |
NKX2-5 | 5q35.1 | AD | Thyroid, heart, pharynx | Thyroid ectopy, athyreosis, congenital cardiac malformations |
FOXE1/TITF2 | 9q22.33 | AR | Thyroid, pituitar, tongue, epiglottis, palate, pharynx, thymus and Rathke’s pouch, choanae, hair follicles | Athyreosis, other forms of thyroid dysgenesis, cleft palate, cleft epiglottis, choanal atresia, spiky hair |
NKX2-1/TITF1 | 14q13.3 | AD | Thyroid, lung, trachea, CNS | Thyroid dysgenesis, dyshormonogenesis due to inhibited TG expression, choreoatetosis, hypotony, respiratory distress |