Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders

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成果类型：

期刊论文

作者：

Tian, Yun;Wang, Jun-Ling;Huang, Wen;Zeng, Sheng;Jiao, Bin;...

通讯作者：

Shen, Lu;Jin, Peng

作者机构：

[Tian, Yun; Sun, Qi-Ying; Yi, Fang; Tang, Bei-Sha; Zhou, Ya-Fang; Xu, Hong-Wei] Cent S Univ, Xiangya Hosp, Dept Geriatr, Changsha 410008, Hunan, Peoples R China.

[Zeng, Sheng; Jiao, Bin; Liu, Zhen; Chen, Zhao; Jiang, Hong; Zhou, Chao-Jun; Yan, Xin-Xiang; Hou, Xuan; Guo, Ji-Feng; Tang, Bei-Sha; Long, Hong-Yu; Wang, Jun-Ling; Shen, Lu] Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China.

[Tian, Yun; Tang, Bei-Sha; Shen, Lu] Cent S Univ, Xiangya Hosp, Natl Clin Res Ctr Geriatr Disorders, Changsha 410008, Hunan, Peoples R China.

[Xia, Kun; Hu, Zheng-Mao; Huang, Wen; Duan, Ran-Hui] Cent S Univ, Sch Life Sci, Ctr Med Genet, Changsha 410008, Hunan, Peoples R China.

[Kong, Ha Eun; Li, Yujing; Shafik, Andrew Mark; Allen, Emily G.; Jin, Peng] Emory Univ, Sch Med, Dept Human Genet, Whitehead Res Bldg,Room 305A,615 Michael St, Atlanta, GA 30322 USA.

通讯机构：

[Shen, Lu] C

[Jin, Peng] E

Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China.

Cent S Univ, Xiangya Hosp, Natl Clin Res Ctr Geriatr Disorders, Changsha 410008, Hunan, Peoples R China.

Emory Univ, Sch Med, Dept Human Genet, Whitehead Res Bldg,Room 305A,615 Michael St, Atlanta, GA 30322 USA.

语种：

英文

关键词：

GGC repeat expansions;NOTCH2NLC;linkage analysis;long-read genome sequencing;neuronal intranuclear inclusion disease;whole-exome sequencing

期刊：

American Journal of Human Genetics

ISSN：

0002-9297

年：

2019

卷：

105

期：

页码：

166-176

DOI：

10.1016/j.ajhg.2019.05.013

基金类别：

We would like to thank the affected individuals for permitting us to publish this information and NIH NeuroBioBank for providing human brain tissues. This work was funded by National Key R&D Program of China ( Grant2018YFC1312003 ) and National Natural Science Foundation of China ( Grant81430023 , Grant81701263 , Grant81671075 , Grant81771366 , and Grant81671120 ).

机构署名：

本校为其他机构

院系归属：

医学院

摘要：

Neuronal intranuclear inclusion disease (NIID) is a slowly progressing neurodegenerative disease characterized by eosinophilic intranuclear inclusions in the nervous system and multiple visceral organs. The clinical manifestation of NIID varies widely, and both familial and sporadic cases have been reported. Here we have performed genetic linkage analysis and mapped the disease locus to 1p13.3-q23.1; however, whole-exome sequencing revealed no potential disease-causing mutations. We then performed long-read genome sequencing and identified a large GGC repeat expansion within human-specific NOT...

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Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders

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