|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report the clinical neurophysiological and neuro-imaging findings of a new subtype of BPAN in a 6 year-old female patient, who was identified to have a large de novo WDR45 deletion who presented in the first year of life with early onset global developmental delay, severe cognitive impairment, generalized hypotonia and a corticosteroid responsive epileptic encephalopathy.
|
31536831 |
2020 |
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Next-generation sequencing revealed a BPAN-causing pathogenic variant in <i>WDR45 (WD repeat-containing protein 45)</i> gene (c.830 + 1G > A, XLD, heterozygous, de novo).
|
31505688 |
2020 |
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Thus, the loss of WDR45 cripples macroautophagy machinery in neurons and leads to impairment in organelle autophagy, which provides a mechanistic understanding of cause of BPAN and a potential therapeutic strategy to treat this genetic disorder.
|
31204559 |
2020 |
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Beta-propeller protein-associated neurodegeneration (BPAN, OMIM 300894) is an X-linked neurodegenerative disorder caused by mutations in WDR45.
|
31332960 |
2019 |
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants.
|
29981852 |
2019 |
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Beta-propeller protein-associated neurodegeneration (BPAN) is caused by mutations in the autophagy gene <i>WDR45/WIPI4</i>.
|
31525124 |
2019 |
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis.
|
30612247 |
2019 |
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
0.800 |
Biomarker
|
disease |
BEFREE |
The role of WDR45 has been implicated in BPAN almost exclusively in females possibly due to male lethality.
|
30612247 |
2019 |
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
0.800 |
Biomarker
|
disease |
BEFREE |
Here, we discuss recent updates on WIPI4's mechanistic role in autophagy and link the neuropathological manifestations of BPAN's biphasic infantile onset (epilepsy, autism) and adolescent onset (dystonic, Parkinsonism, dementia) phenotypes to neurological consequences of autophagy impairment that are now known or emerging in many other neurodevelopmental and neurodegenerative disorders.
|
30204590 |
2019 |
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
BPAN is an X-linked neurodegeneration disorder associated with a mutation in the WDR45 gene.
|
31632858 |
2019 |
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
0.800 |
Biomarker
|
disease |
BEFREE |
WDR45 gene-associated neurodegeneration with brain iron accumulation (NBIA), referred to as beta-propeller protein-associated neurodegeneration (BPAN), is a rare disorder that presents with a very nonspecific clinical phenotype in children constituting global developmental delay.
|
29681108 |
2018 |
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.
|
29171013 |
2018 |
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous de novo variants in the autophagy gene, WDR45, are found in beta-propeller protein-associated neurodegeneration (BPAN).
|
29171013 |
2018 |
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We present a 3-year-old girl with beta-propeller protein-associated neurodegeneration (BPAN) who had a de novo heterozygous splice-site mutation of c.831-1G>C in WDR45 and developed infantile spasms; her onset age of infantile spasms was relatively late.
|
28551038 |
2017 |
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
0.800 |
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 5
|
0.800 |
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 5
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations in <i>WDR45</i> gene, coding for a beta-propeller protein, have been found in patients affected by Neurodegeneration with Brain Iron Accumulation, NBIA5 (also known as BPAN).
|
28261264 |
2017 |
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report.
|
28932395 |
2017 |
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.
|
28711740 |
2017 |
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
De novo mutations in WDR45 cause beta-propeller protein-associated neurodegeneration characterized by iron accumulation in the basal ganglia.
|
27030146 |
2016 |
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
From this pair of siblings with BPAN we conclude that: (1) inherited WDR45 variants are possible, albeit rare; (2) hemizygous germline variants in males can be viable, but likely result in a more severe phenotype; (3) for siblings with germline variants, males should be more significantly affected than females; and (4) because gonadal and germline mosaicism are possible and healthy female carriers can be found, parental testing for variants in WDR45 should be considered.
|
26577041 |
2016 |
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this report, we describe a girl with autistic regression, seizures, intracranial calcification, iron accumulation in substantia nigra, and globi pallidi, and diagnosis of BPAN was established based on the identification of previously described disease causing variant in WD repeat domain 45 (WDR45) gene encoding for β propeller protein.
|
26859818 |
2016 |
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
BPAN is caused by mutations in an X-linked gene WDR45 that is involved in autophagy.
|
26481852 |
2016 |
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism.
|
25744623 |
2015 |