|
Renpenning syndrome 1
|
0.800 |
GeneticVariation
|
disease |
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 |
|
Renpenning syndrome 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Induced pluripotent stem cells (iPSCs) derived from a renpenning syndrome patient with c.459_462delAGAG mutation in PQBP1 (PEIi001-A).
|
31698189 |
2019 |
|
Renpenning syndrome 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of PQBP1 in Renpenning syndrome promote ubiquitin-mediated degradation of FMRP and cause synaptic dysfunction.
|
28073926 |
2017 |
|
Renpenning syndrome 1
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Mutations of PQBP1 in Renpenning syndrome promote ubiquitin-mediated degradation of FMRP and cause synaptic dysfunction.
|
28073926 |
2017 |
|
Renpenning syndrome 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
|
Renpenning syndrome 1
|
0.800 |
Biomarker
|
disease |
CLINGEN |
In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells.
|
25070536 |
2015 |
|
Renpenning syndrome 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
MDDCs derived from Renpenning syndrome patients, who harbor mutations in the PQBP1 locus, possess a severely attenuated innate immune response to HIV-1 challenge, underscoring the role of PQBP1 as a proximal innate sensor of a HIV-1 infection.
|
26046437 |
2015 |
|
Renpenning syndrome 1
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Our findings reveal the conserved function of PQBP1 in mRNA translation and provide molecular insights into the pathogenic mechanisms underlying Renpenning syndrome.
|
26002102 |
2015 |
|
Renpenning syndrome 1
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Mutations in the PQBP1 gene prevent its interaction with the spliceosomal protein U5-15 kD.
|
24781215 |
2014 |
|
Renpenning syndrome 1
|
0.800 |
Biomarker
|
disease |
CLINGEN |
PQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth.
|
23512658 |
2013 |
|
Renpenning syndrome 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
PQBP1 gene mutations (Renpenning syndrome) are responsible for moderate to severe mental deficiency, microcephaly, and small stature.
|
23622180 |
2013 |
|
Renpenning syndrome 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
PQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth.
|
23512658 |
2013 |
|
Renpenning syndrome 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Molecular insights into the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1.
|
22710169 |
2012 |
|
Renpenning syndrome 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.
|
20950397 |
2011 |
|
Renpenning syndrome 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation.
|
21315190 |
2011 |
|
Renpenning syndrome 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Renpenning syndrome is caused by mutations in the polyglutamine binding protein 1 (PQBP1) gene.
|
21204222 |
2011 |
|
Renpenning syndrome 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
PQBP1-linked microcephaly (or Renpenning syndrome) is an X-linked mental retardation syndrome, which has clinically recognizable features.
|
20950397 |
2011 |
|
Renpenning syndrome 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Our study points to the critical role of the WW domain in the function of the PQBP1 protein and provides an insight into the molecular mechanism that underlies the X chromosome-linked mental retardation entities classified globally as Renpenning syndrome.
|
20410308 |
2010 |
|
Renpenning syndrome 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our study points to the critical role of the WW domain in the function of the PQBP1 protein and provides an insight into the molecular mechanism that underlies the X chromosome-linked mental retardation entities classified globally as Renpenning syndrome.
|
20410308 |
2010 |
|
Renpenning syndrome 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
|
17033686 |
2007 |
|
Renpenning syndrome 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
|
17033686 |
2007 |
|
Renpenning syndrome 1
|
0.800 |
Biomarker
|
disease |
CTD_human |
Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene.
|
16740914 |
2006 |
|
Renpenning syndrome 1
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect.
|
16493439 |
2006 |
|
Renpenning syndrome 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene.
|
16740914 |
2006 |
|
Renpenning syndrome 1
|
0.800 |
Biomarker
|
disease |
CTD_human |
In acknowledgement of the historical importance of the original report of Renpenning syndrome [1962], we propose that the entities with PQBP1 mutations be combined under the name of Renpenning syndrome.
|
15782410 |
2005 |