Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

homeobox protein prophet of Pit-1

The PROP1 gene encodes a transcription factor that is required for pituitary development and hormone expression. Mutations in this gene cause autosomal recessive combined pituitary hormone deficiency 2.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Pituitary hormone deficiency type 2
PROP1

References:

1.

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

external link
2.

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

external link
3.

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

external link
4.

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.

external link
5.

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

external link
6.

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

external link
7.

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.

external link
8.

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

external link
9.

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

external link
10.

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

external link
11.

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.

external link
12.

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

external link
13.

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

external link
14.

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.

external link
15.

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

external link
16.

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.

external link
17.

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.

external link
18.

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

external link
19.

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

external link
20.

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

external link
21.

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

external link
22.

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

external link
23.

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).

external link
24.

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

external link
25.

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.

external link
26.

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.

external link
27.

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

external link
28.

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

external link
29.

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.

external link
30.

NCBI article

NCBI 5626 external link
31.

OMIM.ORG article

Omim 601538 external link
32.

Orphanet article

Orphanet ID 118051 external link
33.

Wikipedia article

Wikipedia EN (PROP1) external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits