Back to Search
Start Over
De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.
- Source :
-
Journal of human genetics [J Hum Genet] 2014 May; Vol. 59 (5), pp. 292-5. Date of Electronic Publication: 2014 Mar 13. - Publication Year :
- 2014
-
Abstract
- 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 pallidus and the substantia nigra was observed as early as at 11 years of age. Because the patient showed four of the main RTT diagnostic criteria, WDR45 should be investigated in patients with RTT without MECP2 mutations.
- Subjects :
- Adolescent
Alleles
Alternative Splicing
Brain pathology
DNA Mutational Analysis
Exome
Female
High-Throughput Nucleotide Sequencing
Humans
Magnetic Resonance Imaging
Rett Syndrome diagnosis
Brain metabolism
Carrier Proteins genetics
Iron metabolism
Mutation
Rett Syndrome genetics
Rett Syndrome metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 1435-232X
- Volume :
- 59
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Journal of human genetics
- Publication Type :
- Academic Journal
- Accession number :
- 24621584
- Full Text :
- https://doi.org/10.1038/jhg.2014.18