Phenotype: Pituitary hormone deficiency, combined, 2


OMIM: 262600
Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease

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PROP1 || c.301_302delAG

Gene/Locus:    PROP1
Dna Change:    c.301_302delAG
Protein Change:    p.Leu102Cysfs*8
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 2
Transcript:    NM_006261.4

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainNANANANADusatkova P et al., 2015Dusatkova P, Pfäffle R, Brown MR, Akulevich N, Arnhold IJ, Kalina MA, Kot K, Krzisnik C, Lemos MC, Malikova J, Navardauskaite R, Obermannova B, Pribilincova Z, Sallai A, Stipancic G, Verkauskiene R, Cinek O, Blum WF, Parks JS, Austerlitz F, Lebl J, . Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations.. Eur. J. Hum. Genet.. 2015; 0(0):

PROP1 || c.150delA

Gene/Locus:    PROP1
Dna Change:    c.150delA
Protein Change:    p.Arg53Aspfs*112
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 2
Transcript:    NM_006261.4

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainNANANANADusatkova P et al., 2015Dusatkova P, Pfäffle R, Brown MR, Akulevich N, Arnhold IJ, Kalina MA, Kot K, Krzisnik C, Lemos MC, Malikova J, Navardauskaite R, Obermannova B, Pribilincova Z, Sallai A, Stipancic G, Verkauskiene R, Cinek O, Blum WF, Parks JS, Austerlitz F, Lebl J, . Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations.. Eur. J. Hum. Genet.. 2015; 0(0):

References

Dusatkova P, Pfäffle R, Brown MR, Akulevich N, Arnhold IJ, Kalina MA, Kot K, Krzisnik C, Lemos MC, Malikova J, Navardauskaite R, Obermannova B, Pribilincova Z, Sallai A, Stipancic G, Verkauskiene R, Cinek O, Blum WF, Parks JS, Austerlitz F, Lebl J, Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations.Eur. J. Hum. Genet.. 2015; 0(0):