期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 91, 期 6, 页码 1144-1149出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2012.10.019
关键词
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资金
- NBIA Disorders Association
- Hoffnungsbaum e.V.
- Associazione Italiana Sindromi Neurodegenerative da Accumulo di Ferro
- Oregon Clinical and Translational Research Institute, a component of the National Institutes of Health (NIH) [UL1 RR024140 NCRR]
- NIH Roadmap for Medical Research
- European Commission [277984, 261123]
- German Federal Ministry of Education and Research (Systems Biology of Metabotypes) [SysMBo 0315494A]
- German Network for Mitochondrial Disorders [mitoNET 01GM0867]
- Genetic European Variation in Disease Consortium
- German Ministry for Education and Research [01GR0804-4]
- American Academy of Neurology
- American Philosophical Society
- Action Medical Research
- Fondazione Telethon Funding Source: Custom
- MRC [G108/638, G1001253, G0802760] Funding Source: UKRI
- Action Medical Research [1722] Funding Source: researchfish
- Medical Research Council [G0802760, G108/638, G1001253] Funding Source: researchfish
Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders characterized by abnormal iron deposition in the basal ganglia. 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. The clinical features include early-onset global developmental delay and further neurological deterioration (parkinsonism, dystonia, and dementia developing by early adulthood). Brain MRI revealed evidence of iron deposition in the substantia nigra and globus pallidus. Males and females are phenotypically similar, an observation that might be explained by somatic mosaicism in surviving males and germline or somatic mutations in females, as well as skewing of X chromosome inactivation. This clinically recognizable disorder is among the more common forms of NBIA, and we suggest that it be named accordingly as beta-propeller protein-associated neurodegeneration.
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