| First Author | Yao XP | Year | 2018 |
| Journal | Neuron | Volume | 98 |
| Issue | 6 | Pages | 1116-1123.e5 |
| PubMed ID | 29910000 | Mgi Jnum | J:269369 |
| Mgi Id | MGI:6269118 | Doi | 10.1016/j.neuron.2018.05.037 |
| Citation | Yao XP, et al. (2018) Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification. Neuron 98(6):1116-1123.e5 |
| abstractText | 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 S100beta-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. |
