FOXE1
MIM.602617 9q22
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.
Pathology
germline mutations in
- Bamforth-Lazarus syndrome (thyroid agenesis, cleft palate, and choanal atresia) (MIM.241850)
References
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#