一个家族性多巴反应性肌张力障碍患者的鸟苷三磷酸环化水解酶-1 基因内基因重复。
An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family.
机构信息
Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, London, United Kingdom.
出版信息
Mov Disord. 2011 Apr;26(5):905-9. doi: 10.1002/mds.23593. Epub 2011 Feb 1.
BACKGROUND
Autosomal dominant dopa-responsive dystonia is commonly caused by mutations in the guanosine triphosphate cyclohydrolase-1 gene.
METHODS
We report a British family that has been followed for more than 20 years in which no mutations were previously identified.
RESULTS
Reanalysis of this pedigree detected a duplication of guanosine triphosphate cyclohydrolase-1 exon 2 in affected family members. mRNA analysis showed a mutant transcript with a tandem exon 2 duplication. Four family members developed dopa-responsive dystonia, with onset in their late teens, and subsequently developed restless leg syndrome and migraine.
CONCLUSIONS
This is the first report of an intragenic guanosine triphosphate cyclohydrolase-1 duplication in a dopa-responsive dystonia family.
背景
常染色体显性遗传多巴反应性肌张力障碍通常由鸟苷三磷酸环化水解酶-1 基因突变引起。
方法
我们报告了一个英国家族，该家族已被跟踪超过 20 年，此前未发现任何突变。
结果
对该家系的重新分析检测到鸟苷三磷酸环化水解酶-1 外显子 2 的重复。mRNA 分析显示带有串联外显子 2 重复的突变转录本。有 4 名家族成员出现多巴反应性肌张力障碍，发病于青少年后期，随后发展为不宁腿综合征和偏头痛。
结论
这是多巴反应性肌张力障碍家族中鸟苷三磷酸环化水解酶-1 基因内重复的首次报道。
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