Juvenile onset Huntington disease resulting from a very large maternal expansion
Juvenile onset Huntington disease resulting from a very large maternal expansion
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幼年发病的亨廷顿病是由母体大量扩张引起的
DOI：
10.1002/ajmg.a.30891
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发表时间：
2005
影响因子：
2
通讯作者：
Gerald L. Feldman
中科院分区：
文献类型：
--
作者：
Fatimah A. Nahhas;James Garbern;K. M. Krajewski;Benjamin B. Roa;Gerald L. Feldman
我们报告一名5岁半的女孩，母亲有亨廷顿病（HD）家族史，临床表现为步态不平衡、言语障碍和精细运动控制困难增加。症状开始于3岁半。根据她的家族史，怀疑诊断为青少年HD，经DNA分析证实。7岁时，患者死于继发于基础疾病的并发症。幼年型亨廷顿舞蹈病不常见，主要由父亲传播，并且总是与CAG重复序列的非常大的扩增相关。有趣的是，这名患者从她的母亲那里继承了一个大的CAG尺寸扩张，她的母亲在18岁时就有HD的症状。分子分析显示，母亲有70个CAG重复，而我们的病人有130个CAG重复。这是已被分子证实的来自母体传播的最大规模的CAG扩增，它表明也可以通过母体谱系发生非常大的扩增。© 2005 Wiley利斯公司
We report a 5½‐year‐old girl with a maternal family history of Huntington disease (HD), who presented clinically with unbalanced gait, impaired speech, and increasing difficulty with fine motor control. Onset of symptoms began at the age of 3½ years. The suspected diagnosis of juvenile HD, based upon her family history, was confirmed by DNA analysis. At age 7, the patient died secondary to complications of her underlying disorder. Juvenile‐onset Huntington disease is uncommon, predominantly transmitted by fathers and is always associated with very large expansions of the CAG repeat. Interestingly, this patient inherited a large CAG size expansion from her mother, who herself had symptoms of HD at the age of 18. Molecular analysis revealed that the mother had 70 CAG repeats whereas our patient had ∼130 CAG repeats. This is the largest reported CAG expansion from a maternal transmission that has been confirmed molecularly and it demonstrates that very large expansions can also occur through the maternal lineage. © 2005 Wiley‐Liss, Inc.
亨廷顿蛋白在健康和疾病中的作用。
DOI：
10.1172/jci17742
发表时间：
2003
期刊：
The Journal of clinical investigation
影响因子：
--
作者：
Young,AnneB
通讯作者：
Young,AnneB
亨廷顿病基因中三核苷酸重复的单精子分析：突变频谱的量化。
影响因子：
3.5
作者：
Leeflang,EP;Zhang,L;Tavaré,S;Hubert,R;Srinidhi,J;MacDonald,ME;Myers,RH;deYoung,M;Wexler,NS;Gusella,JF
通讯作者：
Gusella,JF
直接扩增亨廷顿蛋白的 CAG 重复序列，无需扩增 CCG。
影响因子：
9.3
作者：
Bond,CE;Hodes,ME
通讯作者：
Hodes,ME