Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Homeobox-Protein-Prophet von Pit-1

Das PROP1-Gen kodiert einen Transkriptionsfaktor, der für die normale Entwicklung der Hypophyse und die Synthese der Hormone verantwortlich zeichnet. Mutatonen verursachen die autosomal rezessive Erkrankung Hyophysenhormonmangel Typ 2.

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 2
PROP1

Referenzen:

1.

Osorio MG et al. (2002) Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes.

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2.

Li S et. al. (1990) Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1.

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3.

McKusick VA et. al. (1967) General Tom Thumb and other midgets.

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4.

Andersen B et. al. (1995) The Ames dwarf gene is required for Pit-1 gene activation.

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5.

Brown-Borg HM et. al. (1996) Dwarf mice and the ageing process.

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6.

Sornson MW et. al. (1996) Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism.

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7.

Gage PJ et. al. (1996) The Ames dwarf gene, df, is required early in pituitary ontogeny for the extinction of Rpx transcription and initiation of lineage-specific cell proliferation.

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8.

Wu W et. al. (1998) Mutations in PROP1 cause familial combined pituitary hormone deficiency.

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9.

Fofanova O et. al. (1998) Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiency.

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10.

Cogan JD et. al. (1998) The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency.

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11.

Flück C et. al. (1998) Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C).

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12.

Duquesnoy P et. al. (1998) Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency.

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13.

Rosenbloom AL et. al. (1999) Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene.

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14.

Mendonca BB et. al. (1999) Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene.

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15.

Nakamura Y et. al. (1999) Characterization of Prophet of Pit-1 gene expression in normal pituitary and pituitary adenomas in humans.

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16.

Deladoëy J et. al. (1999) "Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency.

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17.

Pernasetti F et. al. (2000) Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 gene.

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18.

Osorio MG et. al. (2000) Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1.

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19.

Agarwal G et. al. (2000) Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion.

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20.

Cushman LJ et. al. (2001) Persistent Prop1 expression delays gonadotrope differentiation and enhances pituitary tumor susceptibility.

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21.

Riepe FG et. al. (2001) Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation.

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22.

Vallette-Kasic S et. al. (2001) PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency.

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23.

Bartke A et. al. (2001) Extending the lifespan of long-lived mice.

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24.

Vieira TC et. al. (2003) Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delay.

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25.

Nasonkin IO et. al. (2004) Pituitary hypoplasia and respiratory distress syndrome in Prop1 knockout mice.

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26.

Lee JK et. al. (2004) Long-term growth hormone therapy in adulthood results in significant linear growth in siblings with a PROP-1 gene mutation.

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27.

Böttner A et. al. (2004) PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis.

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28.

Reynaud R et. al. (2004) A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies.

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29.

Reynaud R et. al. (2005) An uncommon phenotype with familial central hypogonadism caused by a novel PROP1 gene mutant truncated in the transactivation domain.

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