Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.

Journal of human genetics - 1 May 2014

Ohba Chihiro, Nabatame Shin, Iijima Yoshitaka, Nishiyama Kiyomi, Tsurusaki Yoshinori, Nakashima Mitsuko, Miyake Noriko, Tanaka Fumiaki, Ozono Keiichi, Saitsu Hirotomo, Matsumoto Naomichi

Abstract excerpt

Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by MECP2 mutations. We identified a de novo WDR45 mutation, which caused a subtype of neurodegeneration with brain iron accumulation, in a patient showing clinically typical RTT. The mutation (c.830+1G>A) led to aberrant splicing in lymphoblastoid cells. Sequential brain magnetic resonance imaging demonstrated that iron deposition in the globus...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alternative Splicing
Share to Brain

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Carrier Proteins

Share to High-Throughput Nucleotide Sequencing

Share to Magnetic Resonance Imaging

Share to Rett Syndrome

Source

Identifiers

PMID: 24621584
DOI: 10.1038/jhg.2014.18

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.PMID 24621584Read ↗

WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature.Semantic proximity Read ↗

Phenotypic and Imaging Spectrum Associated With WDR45.Semantic proximity Read ↗

[A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood].Semantic proximity Read ↗

When Rett syndrome is due to genes other than MECP2Semantic proximity Read ↗

Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findings.Semantic proximity Read ↗

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.Semantic proximity Read ↗

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.Semantic proximity Read ↗

Beta-propeller protein-associated neurodegeneration presenting Rett-like features: A case report and literature review.Semantic proximity Read ↗

Neurodegeneration with brain iron accumulation 5: report of three cases.Semantic proximity Read ↗

WDR45 variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females.Semantic proximity Read ↗

De novo variants in WDR45 underlie beta-propeller protein-associated neurodegeneration in five independent families.Semantic proximity Read ↗

Novel WDR45 Mutation and Pathognomonic BPAN Imaging in a Young Female With Mild Cognitive Delay.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.