MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
|
0.700 |
Biomarker
|
disease |
CLINGEN |
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.
|
29283210 |
2018 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
|
0.700 |
Biomarker
|
disease |
CLINGEN |
A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.
|
28611923 |
2017 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
|
0.700 |
Biomarker
|
disease |
CLINGEN |
An essential role for UBE2A/HR6A in learning and memory and mGLUR-dependent long-term depression.
|
26476408 |
2016 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
|
0.700 |
Biomarker
|
disease |
CLINGEN |
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.
|
24053514 |
2013 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy.
|
23685073 |
2013 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.
|
20412111 |
2010 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
|
0.700 |
Biomarker
|
disease |
CLINGEN |
Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.
|
20412111 |
2010 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
|
0.700 |
Biomarker
|
disease |
CLINGEN |
UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome.
|
16909393 |
2006 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome.
|
16909393 |
2006 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome.
|
16909393 |
2006 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Intellectual Disability
|
0.180 |
GeneticVariation
|
group |
BEFREE |
A novel splice site mutation in the UBE2A gene leads to aberrant mRNA splicing in a Chinese patient with X-linked intellectual disability type Nascimento.
|
31566921 |
2019 |
Intellectual Disability
|
0.180 |
GeneticVariation
|
group |
BEFREE |
Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability.
|
30531907 |
2019 |
Intellectual Disability
|
0.180 |
Biomarker
|
group |
BEFREE |
Here, we describe two siblings with X-linked ID and typical clinical features of UBE2A deficiency caused by a novel hemizygous variant, identified by massively parallel sequencing of X-exome.
|
29283210 |
2018 |
Intellectual Disability
|
0.180 |
GeneticVariation
|
group |
BEFREE |
We propose that RAD6-KCMF1-UBR4 represents a unique new E2-E3 complex that targets unknown N-end rule substrates for lysosome-mediated degradation, and that disruption of this complex via RAD6A mutations could negatively affect neuronal function in XLID patients.
|
25582440 |
2015 |
Intellectual Disability
|
0.180 |
GeneticVariation
|
group |
BEFREE |
Intragenic mutations of the UBE2A gene, as well as larger deletions of Xq24 encompassing UBE2A have in recent years been associated with a syndromic form of X-linked intellectual disability called UBE2A deficiency syndrome or X-linked intellectual disability type Nascimento (OMIM#300860).
|
25287747 |
2015 |
Intellectual Disability
|
0.180 |
AlteredExpression
|
group |
BEFREE |
Here, we report on overlapping microdeletions at Xq24 that do not include UBE2A or affect its expression, in patients with non-syndromic ID plus some additional features from three unrelated families.
|
23783460 |
2013 |
Intellectual Disability
|
0.180 |
GeneticVariation
|
group |
BEFREE |
We identified a series of patients with X-linked intellectual disability presenting mutations in the Rad6a (Ube2a) gene, which encodes for an E2 ubiquitin-conjugating enzyme.
|
23685073 |
2013 |
Intellectual Disability
|
0.180 |
Biomarker
|
group |
BEFREE |
By using an in-house bacterial artificial chromosome-based X-tilling array, we detected a 0.4 Mb novel deletion at Xq24 that included UBE2A in a 4-year-old and 10-month-old boy with mental retardation and various other characteristics inherited from his mother; for example, marked developmental delay, synophrys, ocular hypertelorism, esotropia, low nasal bridge, marked generalized hirsutism and seizure.
|
20339384 |
2010 |
Intellectual Disability
|
0.180 |
Biomarker
|
group |
HPO |
|
|
|
Severe intellectual disability
|
0.130 |
GeneticVariation
|
disease |
BEFREE |
X-linked intellectual disability type Nascimento (XIDTN), caused by mutations in ubiquitin-conjugating enzyme E2A (UBE2A) gene, is characterized by moderate to severe intellectual disability, impaired speech, urogenital anomalies, skin abnormalities, and dysmorphic facial features.
|
31566921 |
2019 |
Severe intellectual disability
|
0.130 |
Biomarker
|
disease |
BEFREE |
Hitherto only five familial point mutations and four different deletions including UBE2A have been reported in the literature.We present eight additional individuals from five families with UBE2A associated ID - three males from a consanguineous family, in whom we identified a small deletion of only 7.1 kb encompassing the first three exons of UBE2A, two related males with a UBE2A missense mutation in exon 4, a patient with a de novo nonsense mutation in exon 6, and two sporadic males with larger deletions including UBE2A.
|
24053514 |
2013 |