Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification

• Published in: Neuron (Cambridge, Mass.) Vol. 98; no. 6; pp. 1116 - 1123.e5
• Main Authors: Yao, Xiang-Ping, Cheng, Xuewen, Wang, Chong, Zhao, Miao, Guo, Xin-Xin, Su, Hui-Zhen, Lai, Lu-Lu, Zou, Xiao-Huan, Chen, Xue-Jiao, Zhao, Yuying, Dong, En-Lin, Lu, Ying-Qian, Wu, Shuang, Li, Xiaojuan, Fan, Gaofeng, Yu, Hongjie, Xu, Jianfeng, Wang, Ning, Xiong, Zhi-Qi, Chen, Wan-Jin
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 27.06.2018; Elsevier Limited
• Subjects: Adult; Aged; Alleles; Animals; astrocyte; Astrocytes; Astrocytes - metabolism; Basal ganglia; brain calcification; Brain Diseases - genetics; Calcification; Calcinosis - genetics; Case-Control Studies; Female; Genes; Genomes; Genotype & phenotype; glycosidase; Glycoside Hydrolases - genetics; Humans; Loss of Function Mutation; Male; Mice; Mice, Knockout; Middle Aged; mRNA; Mutation; MYORG; Pedigree; PFBC; Recombination; RNA, Messenger - metabolism; Software; China; glycosidase; PFBC; brain calcification; astrocyte; MYORG

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 cau...