Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.


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



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.


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


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


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


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


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


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


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).


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


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.


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.


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


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


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.


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.


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


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.


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


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


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.


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


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


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


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.


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


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


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.


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


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


NCBI article

NCBI 5626 [^]

OMIM.ORG article

Omim 601538 [^]

Orphanet article

Orphanet ID 118051 [^]

Wikipedia article

Wikipedia EN (PROP1) [^]
Update: April 29, 2019