rs104893755
|
|
|
0.040 |
GeneticVariation |
BEFREE |
This case is the first demonstration of CPHD due to compound heterozygous Pit-1 point mutations, as most reported cases of the CPHD phenotype involve either the dominant negative R271W allele or homozygosity for recessive Pit-1 mutations.
|
9485179 |
1998 |
rs104893755
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Taken together with the evidence that phenotypically normal cases have been reported with this mutation, our results deny the relationship between R271W and combined pituitary hormone deficiency.
|
12773133 |
2003 |
rs104893755
|
|
|
0.040 |
GeneticVariation |
BEFREE |
To test the role of wtPIT-1 (PITWT) or PIT-1 (R271W) (PIT271) in somatolactotroph cells, we established, using inducible lentiviral vectors, sublines of GH4C1 somatotroph cells that allow the blockade of the expression of endogenous PIT-1 and/or the expression of PITWT or PIT271, a dominant negative mutant of PIT-1 responsible for Combined Pituitary Hormone Deficiency in patients.
|
25822178 |
2015 |
rs104893755
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We identified a C to T transition in exon 6 of POUF-1, resulting in a known missense mutation (R271W) in a mother and daughter from one family with CPHD.
|
15670191 |
2005 |
rs121917839
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent puberty.
|
12153609 |
2002 |
rs121917839
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The natural history of the R120C PROP1 mutation reveals a wide phenotypic variability in two untreated adult brothers with combined pituitary hormone deficiency.
|
17526949 |
2006 |
rs28936416
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A previously reported patient homozygous for p.I26T had evolving CPHD and EPP.
|
27000987 |
2016 |
rs28936416
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We identified a novel homozygous nonconservative missense mutation (I26T) in the critical Engrailed homology repressor domain (eh1) of HESX1, the first, to our knowledge, to be described in humans, in a girl with evolving combined pituitary hormone deficiency born to consanguineous parents.
|
14561704 |
2003 |
rs766234350
|
|
|
0.020 |
GeneticVariation |
BEFREE |
These data demonstrate that homozygous HESX1 mutation causing an R160H substitution can result in panhypopituitarism without midline defects.
|
22145475 |
2011 |
rs766234350
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A patient homozygous for p.R160H was previously reported in a patient with CPHD</span>, EPP, APH.
|
27000987 |
2016 |
rs104893766
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency.
|
16968807 |
2006 |
rs1169159883
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency.
|
16968807 |
2006 |
rs121917841
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1.
|
10946881 |
2000 |
rs121917843
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.R73C PROP1 mutation was the most frequent mutation in CPHD; this should be the first one to screen in this population.
|
25557026 |
2015 |
rs1237859972
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A patient homozygous for p.R160H was previously reported in a patient with CPHD</span>, EPP, APH.
|
27000987 |
2016 |
rs1292127844
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Among 92 CPHD patients, we identified a novel heterozygous missense mutation c.401C>G (p.Pro134Arg) in a patient with CPHD, pituitary malformation, and an underdeveloped left optic nerve.
|
22715480 |
2012 |
rs1318234609
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel mutation (V101A) of the LHX4 gene in a Japanese patient with combined pituitary hormone deficiency.
|
19856252 |
2010 |
rs137853100
|
|
|
0.010 |
GeneticVariation |
BEFREE |
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.
|
12519826 |
2003 |
rs142400016
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.R73C PROP1 mutation was the most frequent mutation in CPHD; this should be the first one to screen in this population.
|
25557026 |
2015 |
rs1465556147
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel heterozygous p.Glu102Gly mutation in the HESX1 gene and a novel homozygous p.Arg121Thr mutation in the PROP1 gene were detected in 2 pedigrees with CPHD.
|
26111865 |
2015 |
rs199761861
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Among 92 CPHD patients, we identified a novel heterozygous missense mutation c.401C>G (p.Pro134Arg) in a patient with CPHD, pituitary malformation, and an underdeveloped left optic nerve.
|
22715480 |
2012 |
rs201781653
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica.
|
17527005 |
2007 |
rs768165720
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A mutation analysis identified homozygous p.R109Q mutations in HESX1 in a patient with CPHD.
|
28332357 |
2017 |
rs770886420
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Finally, we identified compound heterozygous mutations in HESX1, p.[R159W];[R160H], in a patient with PA and CPHD.
|
27000987 |
2016 |
rs777331392
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These data demonstrate that homozygous HESX1 mutation causing an R160H substitution can result in panhypopituitarism without midline defects.
|
22145475 |
2011 |