Forkhead-Box-Protein E1
Das FOXE1-Gen kodiert einen Trasnkriptionsfaktor, der eine besondere Bedeutung für die Morphogenese der Schilddrüse besitzt.Mutationen führen zum autosomal rezessiven Bamforth-Lazarus-Syndrom, welches durch eine SChilddrüsenaplasie gekennzeichnet ist. Weiterhin scheinen bestimmte Variationen in autosomal dominanter Vererbung die Ausbildung eine nichtmedullären Schilddrüsenkarzinoms zu begünstigen.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Bamforth JS et al. (1989) Congenital hypothyroidism, spiky hair, and cleft palate.
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2. |
Venza I et al. (2011) MSX1 and TGF-beta3 are novel target genes functionally regulated by FOXE1.
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3. |
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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4. |
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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5. |
De Felice M et al. (1998) A mouse model for hereditary thyroid dysgenesis and cleft palate.
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6. |
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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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. |
Chadwick BP et al. (1997) FKHL15, a new human member of the forkhead gene family located on chromosome 9q22.
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9. |
Wiese S et al. (1997) The novel human HNF-3/fork head-like 5 gene: chromosomal localization and expression pattern.
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10. |
Kaufmann E et al. (1996) Five years on the wings of fork head.
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11. |
None (1992) Comparison of epidemiological data on congenital hypothyroidism in Europe with those of other parts in the world.
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12. |
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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13. |
Carré A et al. (2007) Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis.
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14. |
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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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.
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16. |
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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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.
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18. |
Orphanet article
Orphanet ID 121895
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19. |
NCBI article
NCBI 2304
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20. |
OMIM.ORG article
Omim 602617
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21. |
Wikipedia Artikel
Wikipedia DE (Forkhead-Box-Protein_E1)
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Update: 14. August 2020