- Human pathology

Home > A. Molecular pathology > FOXE1


MIM.602617 9q22

Friday 13 May 2005

The ’forkhead’ gene family, originally identified in Drosophila, encodes transcription factors with a conserved 100-amino acid DNA-binding motif called the ’forkhead domain’. Many members of the forkhead/winged-helix transcription factor family are key regulators of embryogenesis.


- germline mutations in

  • Bamforth-Lazarus syndrome (thyroid agenesis, cleft palate, and choanal atresia) (MIM.241850)

- Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions (21981779)


- Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies. Denny JC, Crawford DC, Ritchie MD, Bielinski SJ, Basford MA, Bradford Y, Chai HS, Bastarache L, Zuvich R, Peissig P, Carrell D, Ramirez AH, Pathak J, Wilke RA, Rasmussen L, Wang X, Pacheco JA, Kho AN, Hayes MG, Weston N, Matsumoto M, Kopp PA, Newton KM, Jarvik GP, Li R, Manolio TA, Kullo IJ, Chute CG, Chisholm RL, Larson EB, McCarty CA, Masys DR, Roden DM, de Andrade M. Am J Hum Genet. 2011 Oct 7;89(4):529-42. PMID: 21981779

- Castanet M, Park SM, Smith A, Bost M, Leger J, Lyonnet S, Pelet A, Czernichow P, Chatterjee K, Polak M. A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. Hum Mol Genet. 2002 Aug 15;11(17):2051-9. PMID: 12165566