Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Homeobox-Protein HESX1

Das HESX1-Gen kodiert einen Transkriptionsfaktor, der eine wichtige Rolle bei der Entwicklung des Frontalhirns zu spielen scheint. Mutationen dieses Gens führe zu einer autosomal rezessiven oder dominanten Erkrankung mit variabler Penetranz bei welcher die Wachstumshormonstörungen zusammen mit anderen Störungen der Hypophyse und des Gehirns auftreten, Septooptische Dysplasie oder Wachstumshormonmangel mit Hypophysen-Anomalie genannt.

Diagnostik:

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

Krankheiten:

Hyophysenhormonmangel Typ 5
HESX1

Referenzen:

1.

Hermesz E et. al. (1996) Rpx: a novel anterior-restricted homeobox gene progressively activated in the prechordal plate, anterior neural plate and Rathke's pouch of the mouse embryo.

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2.

Wales JK et. al. (1996) Evidence for possible Mendelian inheritance of septo-optic dysplasia.

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3.

Thomas P et. al. (1996) Anterior primitive endoderm may be responsible for patterning the anterior neural plate in the mouse embryo.

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4.

Dattani MT et. al. (1998) Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse.

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5.

Thomas PQ et. al. (2001) Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.

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6.

Brickman JM et. al. (2001) Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disorders.

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7.

Tajima T et. al. (2003) Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient.

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8.

Cohen RN et. al. (2003) Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia.

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9.

Carvalho LR et. al. (2003) A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction.

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10.

Sobrier ML et. al. (2006) Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities.

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11.

McNay DE et. al. (2007) HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.

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