期刊
NEURON
卷 98, 期 6, 页码 1116-+出版社
CELL PRESS
DOI: 10.1016/j.neuron.2018.05.037
关键词
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资金
- National Natural Science Foundation of China (NSFC) [81322017, 81771230, U1505222, 31771139]
- CAS grant [QYZDJ-SSW-SMC010]
- MOST grant [2016YFA0501002]
- National Key Clinical Specialty Discipline Construction Program
- Key Clinical Specialty Discipline Construction Program of Fujian
- Joint Funds for the Innovation of Science and Technology of Fujian Province [2017Y9094]
Primary familial brain calcification (PFBC) is a genetically heterogeneous disorder characterized by bilateral calcifications in the basal ganglia and other brain regions. The genetic basis of this disorder remains unknown in a significant portion of familial cases. Here, we reported a recessive causal gene, MYORG, for PFBC. Compound heterozygous or homozygous mutations of MYORG co-segregated completely with PFBC in six families, with logarithm of odds (LOD) score of 4.91 at the zero recombination fraction. In mice, Myorg mRNA was expressed specifically in S100b-positive astrocytes, and knockout of Myorg induced the formation of brain calcification at 9 months of age. Our findings provide strong evidence that loss-of-function mutations of MYORG cause brain calcification in humans and mice.
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