期刊
JOURNAL OF HUMAN GENETICS
卷 59, 期 5, 页码 292-295出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/jhg.2014.18
关键词
beta-propeller protein-associated neurodegeneration (BPAN); neurodegeneration with brain iron accumulation; Rett syndrome; static encephalopathy of childhood with neurodegeneration in adulthood; WDR45
资金
- Ministry of Health, Labour, and Welfare of Japan
- Japan Society for the Promotion of Science [25293085, 25293235, 13313587]
- Takeda Science Foundation
- Creation of Innovation Centers for Advanced Interdisciplinary Research Areas Program in the Project for Developing Innovation Systems
- Strategic Research Program for Brain Sciences [11105137]
- Ministry of Education, Culture, Sports, Science and Technology of Japan [12024421]
- Grants-in-Aid for Scientific Research [25293085, 25293235, 24118001] Funding Source: KAKEN
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.
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