Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China.
作者： F. B. Cheng , X. H. Wan , J. C. Feng , L Wang , Y. M. Yang
DOI: 10.1111/J.1468-1331.2010.03192.X
关键词: Mutation frequency 、 Exon 、 Mutation 、 Genotype 、 Genotype-phenotype distinction 、 Dystonia 、 Medicine 、 Cohort 、 Pathology 、 Gene mutation 、 Internal medicine
摘要: Background: Dystonia is defined as the presence of sustained involuntary muscle contractions, often leading to abnormal posture and movement. DYT1 caused by a mutation in TOR1A gene, whilst mutations THAP1 gene have been identified responsible for DYT6. The relative frequency phenotype differences between DYT6 amongst Chinese primary dystonia patients not well-characterized. Patients methods: One hundred eleven unrelated with were screened genes, correlate this clinical presentation. Exon 5 all three exons exon-intron conjunctions direct sequencing. Results: Three subjects found GAG deletion two detected mutations/variations (c.224A>T, c.449A>C). overall was 4.5% cohort 2.7% 1.8%. No controls composed 100 normal subjects. presentations cases included onset limbs that could progress generalized within several years but without cranial involvement. Whilst cases, or cervical progresses very slowly. Conclusion: major China involvement general DYT1.
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