|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
β-Propeller protein-associated neurodegeneration (BPAN) is the most recently identified subtype of NBIA caused by heterozygous variants in WDR45 (OMIM: *300526) at Xp11.23.
|
31536831 |
2020 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient.
|
29681108 |
2018 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We report a 33-year-old female with a rare subtype of NBIA, called beta-propeller protein-associated neurodegeneration (BPAN) with a hitherto unknown missense variant in WDR45.
|
28643035 |
2017 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in WDR45 are responsible for beta-propeller protein-associated neurodegeneration (BPAN), which is an X-linked form of neurodegeneration with brain iron accumulation.
|
28711740 |
2017 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Variants in the WD repeat 45 (WDR45) gene in human Xp11.23 have recently been identified in patients suffering from neurodegeneration with brain iron accumulation, a genetically and phenotypically heterogeneous condition.
|
26173968 |
2016 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the WDR45 gene have been identified as causative for the only X-linked type of neurodegeneration with brain iron accumulation (NBIA), clinically characterized by global developmental delay in childhood, followed by a secondary neurological decline with parkinsonism and/or dementia in adolescence or early adulthood.
|
26790960 |
2016 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.600 |
Biomarker
|
disease |
BEFREE |
Mutations in 10 genes have been associated with NBIA that include Ceruloplasmin (Cp) and ferritin light chain (FTL), both directly involved in iron homeostasis, as well as Pantothenate Kinase 2 (PANK2), Phospholipase A2 group 6 (PLA2G6), Fatty acid hydroxylase 2 (FA2H), Coenzyme A synthase (COASY), C19orf12, WDR45 and DCAF17 (C2orf37).
|
25870938 |
2016 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
All had been clinically diagnosed, and the prevalence of genetic mutations linked to NBIA (PANK2 [exons 1-7], PLA2G6 [exons 2-17], C19orf12 [exons 1-3], WDR45 [exons 2-11], COASY [exons 1-9], FA2H [exons 1-7], and RAB39B [exons 1, 2]) was evaluated.
|
25744623 |
2015 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the WDR45 gene revealed a novel heterozygous missense mutation in one female NBIA patient showing psychomotor retardation with secondary decline.
|
25592411 |
2015 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
WDR45 mutations cause neurodegeneration with brain iron accumulation, usually presenting with early childhood developmental delay and followed by early adulthood extrapyramidal symptoms.
|
26609730 |
2015 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
WDR45 is an X-linked gene associated with a dominant form of Neurodegeneration with Brain Iron Accumulation (NBIA), manifested by progressive disabilities, dystonia, cognitive decline, spastic paraplegia, neuropsychiatric abnormalities and iron deposition in the basal ganglia on brain imaging.
|
26096995 |
2015 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The study subjects consisted of WDR45 mutation-positive individuals identified after screening a large international cohort of patients with idiopathic neurodegeneration with brain iron accumulation.
|
23687123 |
2013 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In contrast, WDR45 mutations lead to a distinct form of NBIA characterized by spasticity and intellectual disability in childhood followed by the subacute onset of dystonia-parkinsonism in adulthood.
|
24142851 |
2013 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.600 |
Biomarker
|
disease |
CTD_human |
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.
|
23435086 |
2013 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We report that de novo mutations in WDR45, a gene located at Xp11.23 and encoding a beta-propeller scaffold protein with a putative role in autophagy, cause a distinctive NBIA phenotype.
|
23176820 |
2012 |
|
Neurodegeneration with brain iron accumulation (NBIA)
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|