Table 5

Transcription factor gene mutations resulting in thyroid dysgenesis and associated clinical findings

Mutated Gene

Associated clinical findings

Thyroid transcription factor 2 (TTF2)

thyroid dysgenesis, choanal atresia, cleft palate and spiky hair

NKX2.1

congenital hypothyroidism, respiratory distress ataxia and benign chorea

NKX2.5

Congenital hypothyroidism and cardiac malformations

PAX-8

Thyroid dysgenesis, kidney and ureteral malformations

Rastogi and LaFranchi Orphanet Journal of Rare Diseases 2010 5:17   doi:10.1186/1750-1172-5-17