|
Hypopituitarism
|
0.100 |
Biomarker
|
disease |
BEFREE |
Xq27.1 Duplication Encompassing SOX3: Variable Phenotype and Smallest Duplication Associated with Hypopituitarism to Date - A Large Case Series of Unrelated Patients and a Literature Review.
|
31678974 |
2019 |
|
Hypopituitarism
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
This is the first study to report that the rare SOX3 missense variant associated with hypopituitarism possibly due to increased activation of SOX3 target genes and disregulation of β-catenin target genes.
|
30125608 |
2018 |
|
Hypopituitarism
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
SOX3 is located on the long arm of the X chromosome (Xq27.1) and both the under- and over-expression of this gene have been reported in cases of hypopituitarism with or without intellectual disabilities.
|
25402377 |
2015 |
|
Hypopituitarism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our study provides additional evidence that deletion in PA tracts of SOX3 is associated with hypopituitarism.
|
24346842 |
2014 |
|
Hypopituitarism
|
0.100 |
Biomarker
|
disease |
BEFREE |
In humans, over- and underdosage of SOX3 is associated with X-linked hypopituitarism with variable phenotypes ranging from isolated GH deficiency (GHD) to panhypopituitarism, with or without mental retardation and, in most cases, with reported pituitary imaging, an ectopic/undescended posterior pituitary.
|
25140394 |
2014 |
|
Hypopituitarism
|
0.100 |
Biomarker
|
disease |
BEFREE |
Unexpectedly, the microduplication did not fully segregate with the disease in this family suggesting that SOX3 duplications have variable penetrance for X-linked hypopituitarism.
|
24737742 |
2014 |
|
Hypopituitarism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In humans, duplication of SOX3 and polyalanine expansions at its C-terminus may cause intellectual disability and hypopituitarism.
|
23463539 |
2013 |
|
Hypopituitarism
|
0.100 |
Biomarker
|
disease |
BEFREE |
PROK2 and PROKR2 and all genes previously known to be involved in hypopituitarism with pituitary stalk interruption (LHX4, HESX1, OTX2, and SOX3) were screened in 72 index cases with pituitary stalk interruption syndrome from the GENHYPOPIT database.
|
22466334 |
2012 |
|
Hypopituitarism
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
This is the first study to report that PA tract deletions associated with hypopituitarism have functional consequences in vitro, possibly due to increased activation of SOX3 target genes.
|
21289259 |
2011 |
|
Hypopituitarism
|
0.100 |
Biomarker
|
disease |
LHGDN |
Polyalanine expansion mutations in the X-linked hypopituitarism gene SOX3 result in aggresome formation and impaired transactivation.
|
17127446 |
2007 |
|
Hypopituitarism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Duplications and polyalanine expansions within the transcription factor SOX3 have recently been described in association with infundibular hypoplasia, hypopituitarism and variable mental retardation, whilst mutations in SOX2 are associated with variable hypopituitarism in association with learning difficulties, oesophageal atresia and anophthalmia.
|
18174732 |
2007 |
|
Hypopituitarism
|
0.100 |
Biomarker
|
disease |
BEFREE |
These data suggest that deregulation of SOX3 target genes and inappropriate canonical Wnt signaling in central nervous system (CNS) progenitors may also contribute to dysfunction of the hypothalamic-pituitary axis in XH patients.
|
17127446 |
2007 |
|
Hypopituitarism
|
0.100 |
Biomarker
|
disease |
LHGDN |
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.
|
15800844 |
2005 |
|
Hypopituitarism
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our findings further suggest that a dosage effect of SOX3 may to be responsible for a speech disorder in addition to short stature secondary to hypopituitarism.
|
16097007 |
2005 |
|
Hypopituitarism
|
0.100 |
Biomarker
|
disease |
BEFREE |
We conclude that both over- and underdosage of SOX3 are associated with similar phenotypes, consisting of infundibular hypoplasia and hypopituitarism but not necessarily MR.
|
15800844 |
2005 |
|
Hypopituitarism
|
0.100 |
Biomarker
|
disease |
BEFREE |
As mutation of this gene in human beings and mice results in hypopituitarism, we hypothesise that increased dosage of Sox3 causes perturbation of pituitary and hypothalamic development and may be the causative mechanism for X linked hypopituitarism.
|
15342697 |
2004 |
|
Hypopituitarism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This has enabled us to question the suggestion that duplication of the gene SOX3 is the cause of hypopituitarism and that duplication of Filamin A is the cause of bilateral periventricular nodular heterotopia/mental retardation syndrome (BPNH/MR).
|
15338277 |
2004 |