Factors Associated with Intergenerational Instability ofATXN3CAG Repeat and Genetic Anticipation in Chinese Patients with Spinocerebellar Ataxia Type 3

被引：5
作者：
Du, Yi-Chu [1 ,2 ,3 ]
Ma, Yin [1 ,2 ,3 ]
Shao, Ya-Ru [1 ,2 ,3 ]
Gan, Shi-Rui [4 ,5 ]
Dong, Yi [1 ,2 ,3 ,6 ,7 ]
Wu, Zhi-Ying [1 ,2 ,3 ]
机构：
[1] Zhejiang Univ, Sch Med, Affiliated Hosp 2, Dept Neurol, Hangzhou 310009, Peoples R China
[2] Zhejiang Univ, Sch Med, Affiliated Hosp 2, Res Ctr Neurol, Hangzhou 310009, Peoples R China
[3] Zhejiang Univ, Sch Med, Key Lab Med Neurobiol Zhejiang Prov, Hangzhou 310009, Peoples R China
[4] Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, Fuzhou 350005, Peoples R China
[5] Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou 350005, Peoples R China
[6] Fudan Univ, Shanghai Med Coll, Huashan Hosp, Dept Neurol, Shanghai 200041, Peoples R China
[7] Fudan Univ, Shanghai Med Coll, Huashan Hosp, Inst Neurol, Shanghai 200041, Peoples R China
来源：
CEREBELLUM | 2020年 / 19卷 / 06期
关键词：
Spinocerebellar ataxia type 3; Intergenerational transmission; Genetic anticipation; Chinese; CAG REPEAT;
D O I：
10.1007/s12311-020-01167-x
中图分类号：
Q189 [神经科学];
学科分类号：
071006 ;
摘要：
Spinocerebellar ataxia type 3 (SCA3) is caused by unstable expanded CAG repeats (expCAGs) inATXN3. Factors associated with intergenerational instability (delta-expCAG) and genetic anticipation in SCA3 have never been reported in Chinese mainland. Here, we demonstrated that unstable transmissions occurred more often in sons than in daughters (91% vs 72%, Fisher's exact test,p = 0.012). The extended delta-expCAG of father-son transmissions was greater than that of mother-son transmissions (3.8 +/- 2.3 repeats vs 1.6 +/- 1.0 repeats, Mann-WhitneyU,p = 0.001). Genetic anticipation was frequently observed between generations but not affected by the delta-expCAG.
引用
收藏
页码：902 / 906
页数：5
相关论文
共 15 条
[1]   Factors associated with ATXN2 CAG/CAA repeat intergenerational instability in Spinocerebellar ataxia type 2 [J].
Almaguer-Mederos, L. E. ;
Mesa, J. M. L. ;
Gonzalez-Zaldivar, Y. ;
Almaguer-Gotay, D. ;
Cuello-Almarales, D. ;
Aguilera-Rodriguez, R. ;
Falcon, N. S. ;
Gispert, S. ;
Auburger, G. ;
Velazquez-Perez, L. .
CLINICAL GENETICS, 2018, 94 (3-4) :346-350
[2]   Correlation Between CCG Polymorphisms and CAG Repeats During Germline Transmission in Chinese Patients with Huntington's Disease [J].
Cheng, Hong-Rong ;
Li, Xiao-Yan ;
Yu, Hui-Li ;
Xu, Miao ;
Zhang, Yan-Bin ;
Gan, Shi-Rui ;
Li, Hong-Lei ;
Wu, Zhi-Ying .
NEUROSCIENCE BULLETIN, 2020, 36 (07) :811-814
[3]   Spinocerebellar ataxia 3 and Machado-Joseph disease: Clinical, molecular, and neuropathological features [J].
Durr, A ;
Stevanin, G ;
Cancel, G ;
Duyckaerts, C ;
Abbas, N ;
Didierjean, O ;
Chneiweiss, H ;
Benomar, A ;
LyonCaen, O ;
Julien, J ;
Serdaru, M ;
Penet, C ;
Agid, Y ;
Brice, A .
ANNALS OF NEUROLOGY, 1996, 39 (04) :490-499
[4]   High frequency of Machado-Joseph disease identified in Southeastern Chinese kindreds with spinocerebellar ataxia [J].
Gan, Shi-Rui ;
Shi, Sheng-Sheng ;
Wu, Jian-Jun ;
Wang, Ning ;
Zhao, Gui-Xian ;
Weng, Sheng-Tong ;
Murong, Shen-Xing ;
Lu, Chuan-Zhen ;
Wu, Zhi-Ying .
BMC MEDICAL GENETICS, 2010, 11
[5]   Studies of the CAG repeat in the Machado-Joseph disease gene in Taiwan [J].
Hsieh, ML ;
Tsai, HF ;
Lu, TM ;
Yang, CY ;
Wu, HM ;
Li, SY .
HUMAN GENETICS, 1997, 100 (02) :155-162
[6]   Neurofilament light chain is a promising serum biomarker in spinocerebellar ataxia type 3 [J].
Li, Quan-Fu ;
Dong, Yi ;
Yang, Lu ;
Xie, Juan-Juan ;
Ma, Yin ;
Du, Yi-Chu ;
Cheng, Hao-Ling ;
Ni, Wang ;
Wu, Zhi-Ying .
MOLECULAR NEURODEGENERATION, 2019, 14 (01)
[7]  
MACIEL P, 1995, AM J HUM GENET, V57, P54
[8]   Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease [J].
Martins, Sandra ;
Coutinho, Paula ;
Silveira, Isabel ;
Giunti, Paola ;
Jardim, Laura B. ;
Calafell, Francesc ;
Sequeiros, Jorge ;
Amorim, Antonio .
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2008, 147B (04) :439-446
[9]   Modifiers of (CAG)n instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes [J].
Martins, Sandra ;
Pearson, Christopher E. ;
Coutinho, Paula ;
Provost, Sylvie ;
Amorim, Antonio ;
Dube, Marie-Pierre ;
Sequeiros, Jorge ;
Rouleau, Guy A. .
HUMAN GENETICS, 2014, 133 (10) :1311-1318
[10]   Intergenerational instability in Huntington disease: Extreme repeat changes among 134 transmissions [J].
Ramos, Eliana Marisa ;
Cerqueira, Joana ;
Lemos, Carolina ;
Pinto-Basto, Jorge ;
Alonso, Isabel ;
Sequeiros, Jorge .
MOVEMENT DISORDERS, 2012, 27 (04) :583-585
12