Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Genetic testing led to the detection of an X-linked hemizygous truncating mutation in the nuclear polyglutamine-binding protein 1 (<i>PQBP1</i>) gene confirming the diagnosis of X-linked recessive Renpenning syndrome.<b>Conclusion</b>: The presence of X-linked intellectual disability and characteristic dysmorphism, in a patient with the MAC spectrum should raise the suspicion of Renpenning syndrome.
|
31718390 |
2019 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Frameshift PQBP-1 mutants K192S<sup>fs*7</sup> and R153S<sup>fs*41</sup> implicated in X-linked intellectual disability form stable dimers.
|
30951824 |
2019 |
Intellectual Disability
|
0.500 |
Biomarker
|
group |
BEFREE |
PQBP1, an intrinsically disordered/denatured protein at the crossroad of intellectual disability and neurodegenerative diseases.
|
28627366 |
2018 |
Intellectual Disability
|
0.500 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Whole exome sequencing identified a novel missense PQBP1 variant c.530G>A:p.R177H in the second family, in which the index patient presented with intellectual disability and dysmorphic facial features reminiscent of Kabuki-like syndrome and his brain magnetic resonance imaging revealed partial agenesis of corpus callosum, mild vermis, and brainstem hypoplasia.
|
30244542 |
2018 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Whole exome sequencing identified a novel missense PQBP1 variant c.530G>A:p.R177H in the second family, in which the index patient presented with intellectual disability and dysmorphic facial features reminiscent of Kabuki-like syndrome and his brain magnetic resonance imaging revealed partial agenesis of corpus callosum, mild vermis, and brainstem hypoplasia.
|
30244542 |
2018 |
Intellectual Disability
|
0.500 |
Biomarker
|
group |
BEFREE |
Here, we show that phosphorylation of serine/arginine repetitive matrix 2 (SRRM2) at Ser1068, which is observed in the brains of early phase AD mouse models and postmortem end-stage AD patients, prevents its nuclear translocation by inhibiting interaction with T-complex protein subunit α. SRRM2 deficiency in neurons destabilized polyglutamine binding protein 1 (PQBP1), a causative gene for intellectual disability (ID), greatly affecting the splicing patterns of synapse-related genes, as demonstrated in a newly generated PQBP1-conditional knockout model.
|
30283027 |
2018 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The WW domain belonging to polyglutamine tract-binding protein 1 (PQBP1) is of particular interest due to its direct involvement in several X chromosome-linked intellectual disabilities, including Golabi-Ito-Hall (GIH) syndrome, where a single point mutation (Y65C) correlates with the development of the disease.
|
27456546 |
2016 |
Intellectual Disability
|
0.500 |
Biomarker
|
group |
BEFREE |
Atypical microduplications allowed us to identify minimal critical regions that might be responsible for specific clinical findings of the syndrome and to suggest possible candidate genes: FTSJ1 and SHROOM4 for intellectual disability along with PQBP1 and SLC35A2 for epilepsy.
|
25425167 |
2015 |
Intellectual Disability
|
0.500 |
Biomarker
|
group |
BEFREE |
PQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth.
|
23512658 |
2013 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in the PQBP1 gene were reported in several X chromosome-linked intellectual disability (XLID) disorders, including Golabi-Ito-Hall (GIH) syndrome.
|
22710169 |
2012 |
Intellectual Disability
|
0.500 |
Biomarker
|
group |
BEFREE |
Together with previously reported observations, our data further confirm that PQBP1 gene should be tested for males showing mental retardation, short stature, lean body and microcephaly.
|
21315190 |
2011 |
Intellectual Disability
|
0.500 |
Biomarker
|
group |
BEFREE |
The polyglutamine-binding protein 1 (PQBP1) has been linked to several X-linked intellectual disability disorders and progressive neurodegenerative diseases.
|
21933836 |
2011 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
For four mutations affecting ATRX (p.1761M>T), PQBP1 (p.155R>X) and SLC6A8 (p.390P>L and p.477S>L), we provide evidence for a functional involvement of these changes in the aetiology of intellectual disability.
|
21267006 |
2011 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in the PQBP1 gene were reported in several X chromosome-linked mental retardation disorders including Golabi-Ito-Hall syndrome.
|
20410308 |
2010 |
Intellectual Disability
|
0.500 |
Biomarker
|
group |
BEFREE |
PQBP1 (polyglutamine tract-binding protein 1) is a causative gene for a relatively frequent X-linked syndromic and non-syndromic mental retardation (MR).
|
19661183 |
2009 |
Intellectual Disability
|
0.500 |
Biomarker
|
group |
BEFREE |
Nematode homologue of PQBP1, a mental retardation causative gene, is involved in lipid metabolism.
|
19119319 |
2009 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
|
17033686 |
2007 |
Intellectual Disability
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Frame shift mutations of the polyglutamine binding protein-1 (PQBP1) gene lead to total or partial truncation of the C-terminal domain (CTD) and cause mental retardation in human patients.
|
16597440 |
2006 |
Intellectual Disability
|
0.500 |
Biomarker
|
group |
BEFREE |
This localisation overlaps MRXS3, a syndromic form of mental retardation resembling that found in the family described here, although with a milder presentation.
|
9598720 |
1998 |
Intellectual Disability
|
0.500 |
Biomarker
|
group |
HPO |
|
|
|