Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The FOXE1 gene encodes a transcription factor that plays an important role in thyroid morphogenesis. Mutations cause autosomal recessive Bamforth-Lazarus syndrome which is characterized by athyroid hypothyroidism and in an autosomal dominant manner non-medullary thyroid cancer.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Multiplex Ligation-Dependent Probe Amplification |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Bamforth JS et al. (1989) Congenital hypothyroidism, spiky hair, and cleft palate. 
|
| 2. |
Venza I et al. (2011) MSX1 and TGF-beta3 are novel target genes functionally regulated by FOXE1.
|
| 3. |
Moreno LM et al. (2009) FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate.
|
| 4. |
Brancaccio A et al. (2004) Requirement of the forkhead gene Foxe1, a target of sonic hedgehog signaling, in hair follicle morphogenesis.
|
| 5. |
De Felice M et al. (1998) A mouse model for hereditary thyroid dysgenesis and cleft palate.
|
| 6. |
Manley NR et al. (1998) Hox group 3 paralogs regulate the development and migration of the thymus, thyroid, and parathyroid glands.
|
| 7. |
Zannini M et al. (1997) TTF-2, a new forkhead protein, shows a temporal expression in the developing thyroid which is consistent with a role in controlling the onset of differentiation.
|
| 8. |
Chadwick BP et al. (1997) FKHL15, a new human member of the forkhead gene family located on chromosome 9q22.
|
| 9. |
Wiese S et al. (1997) The novel human HNF-3/fork head-like 5 gene: chromosomal localization and expression pattern.
|
| 10. |
Kaufmann E et al. (1996) Five years on the wings of fork head.
|
| 11. |
None (1992) Comparison of epidemiological data on congenital hypothyroidism in Europe with those of other parts in the world.
|
| 12. |
Pereira JS et al. (2015) Identification of a novel germline FOXE1 variant in patients with familial non-medullary thyroid carcinoma (FNMTC).
|
| 13. |
Carré A et al. (2007) Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis.
|
| 14. |
Baris I et al. (2006) A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis.
|
| 15. |
Castanet M et al. (2002) A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate.
|
| 16. |
Clifton-Bligh RJ et al. (1998) Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia.
|
| 17. |
Trueba SS et al. (2005) PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations.
|
| 18. |
Orphanet article Orphanet ID 121895
|
| 19. |
NCBI article NCBI 2304
|
| 20. |
OMIM.ORG article Omim 602617
|
| 21. |
Wikipedia article Wikipedia EN (FOXE1)
|
 |
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944 Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits |
