|
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 |
Beta-propeller protein-associated neurodegeneration is a newly described X-linked dominant condition due to heterozygous mutations in WDR45.
|
25301227 |
2014 |
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recently, WDR45 mutations were reported in patients with β-propeller protein-associated neurodegeneration (BPAN), characterized by early intellectual disability followed by delayed progressive motor and cognitive deterioration with onset in the second to third decade.
|
25263061 |
2014 |
|
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
By exome sequencing, we found de novo heterozygous mutations in WDR45 at Xp11.23 in two individuals with SENDA, and three additional WDR45 mutations were identified in three other subjects by Sanger sequencing.
|
23435086 |
2013 |
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
De novo mutations in moderate or severe intellectual disability.
|
25356899 |
2014 |
|
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 |
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
|
23176820 |
2012 |
|
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 |
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this case report, we present a pediatric patient with mild cognitive delay and pathognomonic MRI changes indicative of BPAN preceding neurologic deterioration who is found to have a novel de novo mutation in the WDR45 gene.
|
26240209 |
2015 |
|
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 report the clinical and neuroradiological findings of a patient with SENDA with a novel c.322del mutation in WDR45.
|
25044655 |
2014 |
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Beta-propeller protein associated neurodegeneration (BPAN) is associated with mutations in the WD repeat domain 45 (WDR45) gene on chromosome Xp11 resulting in reduced autophagic flux.
|
26123052 |
2015 |
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We detected 7 female patients (25.0%, 7 of 28) with de novo heterozygote WDR45 mutations, which are known to be pathogenic for beta-propeller protein-associated neurodegeneration.
|
25744623 |
2015 |
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.
|
25592411 |
2015 |
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
However, the identification of a WDR45 mutation is needed for a definite diagnosis of BPAN.
|
24368176 |
2014 |
|
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 |
UNIPROT |
By exome sequencing, we found de novo heterozygous mutations in WDR45 at Xp11.23 in two individuals with SENDA, and three additional WDR45 mutations were identified in three other subjects by Sanger sequencing.
|
23435086 |
2013 |
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
By exome sequencing, we found de novo heterozygous mutations in WDR45 at Xp11.23 in two individuals with SENDA, and three additional WDR45 mutations were identified in three other subjects by Sanger sequencing.
|
23435086 |
2013 |
|
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 |