Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

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.

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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