Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification

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

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Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification

机译：Myorg中的双晶均突变导致常染色体隐性主要家族脑钙化

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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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《Neuron》 |2018年第6期|共13页
作者
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;
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作者单位

Fujian Med Univ Affiliated Hosp 1 Dept Neurol Fuzhou 350005 Fujian Peoples R China;

Chinese Acad Sci Inst Neurosci Shanghai 200031 Peoples R China;

Fujian Med Univ Affiliated Hosp 1 Dept Neurol Fuzhou 350005 Fujian Peoples R China;

Fujian Med Univ Affiliated Hosp 1 Dept Neurol Fuzhou 350005 Fujian Peoples R China;

Fujian Med Univ Affiliated Hosp 1 Dept Neurol Fuzhou 350005 Fujian Peoples R China;

Fujian Med Univ Affiliated Hosp 1 Dept Neurol Fuzhou 350005 Fujian Peoples R China;

Fujian Med Univ Affiliated Hosp 1 Dept Neurol Fuzhou 350005 Fujian Peoples R China;

Fujian Med Univ Affiliated Hosp 1 Dept Neurol Fuzhou 350005 Fujian Peoples R China;

Fujian Med Univ Zhangzhou Affiliated Hosp Dept Neurol Zhangzhou 363000 Peoples R China;

Shandong Univ Qilu Hosp Lab Neuromuscular Disorders Jinan 250012 Shandong Peoples R China;

Fujian Med Univ Affiliated Hosp 1 Dept Neurol Fuzhou 350005 Fujian Peoples R China;

Fujian Med Univ Affiliated Hosp 1 Dept Neurol Fuzhou 350005 Fujian Peoples R China;

Fujian Med Univ Affiliated Hosp 1 Dept Neurol Fuzhou 350005 Fujian Peoples R China;

ShanghaiTech Univ Sch Life Sci &

Technol Shanghai 201210 Peoples R China;

ShanghaiTech Univ Sch Life Sci &

Technol Shanghai 201210 Peoples R China;

NorthShore Univ HealthSyst Program Personalized Canc Care Evanston IL 60201 USA;

NorthShore Univ HealthSyst Program Personalized Canc Care Evanston IL 60201 USA;

Fujian Med Univ Affiliated Hosp 1 Dept Neurol Fuzhou 350005 Fujian Peoples R China;

Chinese Acad Sci Inst Neurosci Shanghai 200031 Peoples R China;

Fujian Med Univ Affiliated Hosp 1 Dept Neurol Fuzhou 350005 Fujian Peoples R China;

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正文语种 eng
中图分类神经病学;
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1. Identification of MYORG as a New Causative Gene for Primary Familial Brain Calcification [J] . 中国科学院院刊：英文版 . 2018,第002期
2. A novel homozygous mutation of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia [J] . Nan Li, Xiang Li, Xiao-Lin Ni, 中华医学杂志（英文版） . 2021,第015期
3. Clinical Features of Primary Familial Brain Calcification in 17 Families [J] . Yuan-Tao Huang, Li-Hua Zhang, Mei-Fang Li, 中华医学杂志（英文版） . 2018,第024期
4. A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification [J] . Forouhideh Yalda, Mueller Kathrin, Ruf Wolfgang, Brain: A journal of neurology . 2019,第Pta2期

机译：双胞胎突变链接Myorg到常染色体隐性的主要家族脑钙化
5. Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification [J] . Yao Xiang-Ping, Cheng Xuewen, Wang Chong, Neuron . 2018,第6期

机译：Myorg中的双晶均突变导致常染色体隐性主要家族脑钙化
6. Biallelic MYORG MYORG mutations: Primary familial brain calcification goes recessive [J] . Alvarez‐Fischer Daniel, Westenberger Ana Movement disorders . 2019,第3期

机译：Biallelic Myorg myorg突变：主要家族脑钙化会隐性
7. Autosomal recessive ichthyosis in golden retriever dogs: distribution and frequency of the PNPLA1 mutant allele in different populations [C] . Eric Guaguere, Anne Thomast, Anais Grail, World Congress of Veterinary Dermatology . 2013

机译：金毛犬常染色体隐性的IChthyosisis：PNPLA1突变等位基因在不同种群中的分布和频率
8. Investigation of daily four month sildenafil administration on heterozygous carriers of a phosphodiesterase 6 mutation in a canine model of autosomal recessive retinitis pigmentosa. [D] . Pierce, Kenneth E., Jr. 2011

机译：在常染色体隐性遗传性视网膜炎的犬模型中，每天四个月西地那非对磷酸二酯酶6突变的杂合子载体给药的研究。
9. MYORG is associated with recessive primary familial brain calcification [O] . David Arkadir, Alexander Lossos, Dolev Rahat, 2019

机译：MYORG与隐性原发性家族性脑钙化有关
10. A biallelic mutation linksMYORGto autosomal-recessive primary familial brain calcification [O] . Yalda Forouhideh, Kathrin Müller, Wolfgang Ruf, 2019

机译：双胞胎突变Linksmyorgto常染色体 - 隐性主要家族脑钙化
11. Primary Biochemical Defect in Copper Metabolism in Mice with a Recessive X-Linked Mutation Analogous to Menkes' Disease in Man [R] . Prins, H. W., van den Hamer, C. J. A. 1979

机译：与人类menkes病相似的隐性X连锁突变小鼠铜代谢的原代生化缺陷

Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification

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