Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome
Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome
复制标题
斯里兰卡 Rett 综合征患者 MECP2 基因变异概况
DOI：
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发表时间：
2019
影响因子：
3.9
通讯作者：
V. H. W. Dissanayake
中科院分区：
文献类型：
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作者：
D. Hettiarachchi;N. F. Neththikumara;B. Pathirana;V. H. W. Dissanayake
Rett综合征(RTT)是一种罕见的单基因疾病，每10,000名活产女婴中就有1名患病，导致严重的神经退行性症状。我们分析了16例RTT女孩的甲基-CpG结合蛋白2(MECP2)基因的分子遗传变异。它们的突变谱如下：已描述的变异：p.R168X占25%(n = 4)，p.T158M占25%(n = 4)，p.R255X占12.5%(n = 2)，p.R133C占12.5%(n = 2)，p.R294X占6.25%(n = 1)，p.K177X占6.25%(n = 1)。新的变异体：6.25%(n = 1)中的大缺失(c.868_1188del321)和6.25%(n = 1)中的p.X499L。我们还观察了这些变异的基因型与表型的相关性。与在其他人群中看到的一样，大多数突变是CpG热点的C>；T。
Rett syndrome (RTT) is a rare monogenic disorder affecting 1 in 10,000 live female births causing severe neurodegenerative symptoms. We analyzed the molecular genetic variants in the gene encoding the methyl-CpG binding protein 2 (MECP2) of 16 girls with RTT. Their mutation profile was as follows; Already described variants: p.R168X in 25% (n = 4), p.T158M in 25% (n = 4), p.R255X in 12.5% (n = 2), p.R133C in 12.5% (n = 2), p.R294X in 6.25% (n = 1), p.K177X in 6.25% (n = 1). Novel variants: a large deletion (c.868_1188del321) in 6.25% (n = 1) and a p.X499L in 6.25% (n = 1). We also looked at the genotype to phenotype correlation of these variants. Most of the mutations were C>T in CpG hot spot as seen in other populations.
DOI：
10.1073/pnas.0507856102
发表时间：
2005-12-06
影响因子：
11.1
作者：
Young, JI;Hong, EP;Zoghbi, HY
通讯作者：
Zoghbi, HY