Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Forkhead box protein E1

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.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Bamforth-Lazarus syndrome
FOXE1
Non-medullary thyroid cancer 4
FOXE1

References:

1.

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.

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2.

None (1992) Comparison of epidemiological data on congenital hypothyroidism in Europe with those of other parts in the world.

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3.

Bamforth JS et. al. (1989) Congenital hypothyroidism, spiky hair, and cleft palate.

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4.

Kaufmann E et. al. (1996) Five years on the wings of fork head.

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5.

Wiese S et. al. (1997) The novel human HNF-3/fork head-like 5 gene: chromosomal localization and expression pattern.

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6.

Chadwick BP et. al. (1997) FKHL15, a new human member of the forkhead gene family located on chromosome 9q22.

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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.

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8.

Manley NR et. al. (1998) Hox group 3 paralogs regulate the development and migration of the thymus, thyroid, and parathyroid glands.

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9.

De Felice M et. al. (1998) A mouse model for hereditary thyroid dysgenesis and cleft palate.

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10.

Clifton-Bligh RJ et. al. (1998) Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia.

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11.

Castanet M et. al. (2002) A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate.

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12.

Brancaccio A et. al. (2004) Requirement of the forkhead gene Foxe1, a target of sonic hedgehog signaling, in hair follicle morphogenesis.

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13.

Baris I et. al. (2006) A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis.

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14.

Carré A et. al. (2007) Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis.

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15.

Moreno LM et. al. (2009) FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate.

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16.

Venza I et. al. (2011) MSX1 and TGF-beta3 are novel target genes functionally regulated by FOXE1.

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17.

Pereira JS et. al. (2015) Identification of a novel germline FOXE1 variant in patients with familial non-medullary thyroid carcinoma (FNMTC).

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Update: Sept. 26, 2018