Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Bamforth-Lazarus-Syndrom
FOXE1
Nicht-medulläres Schilddrüsenkarzinom 4
FOXE1

Referenzen:

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.

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

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3.

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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4.

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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5.

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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6.

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

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7.

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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8.

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

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9.

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

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10.

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

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11.

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

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12.

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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13.

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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14.

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

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15.

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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16.

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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17.

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

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18.

Orphanet article

Orphanet ID 121895 [^]
19.

NCBI article

NCBI 2304 [^]
20.

OMIM.ORG article

Omim 602617 [^]
21.

Wikipedia Artikel

Wikipedia DE (Forkhead-Box-Protein_E1) [^]
Update: 9. Mai 2019