Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience.
Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience.
复制标题
DOI：
10.3389/fgene.2018.00150
复制
发表时间：
2018
影响因子：
3.7
通讯作者：
Vermeesch JR
中科院分区：
文献类型：
--
作者：
Ardui S;Race V;de Ravel T;Van Esch H;Devriendt K;Matthijs G;Vermeesch JR
脆性X综合征由前突变（55-200个重复）到全突变等位基因（>200个重复）的FMR 1 CGG扩增引起，是遗传性X连锁智力残疾的最常见原因。前突变扩展为全突变等位基因的风险取决于重复长度和中断该重复的AGG三联体。在遗传咨询中，重要的是要有这两个参数的信息，以提供一个准确的风险估计，妇女携带前突变等位基因和权衡有孩子。例如，在风险小的情况下，妇女可能会选择自然怀孕，然后进行产前诊断，而如果风险高，她可能会选择植入前遗传学诊断（PGD）。不幸的是，AGG中断的检测以前受到技术困难的阻碍，使其在诊断中的使用变得复杂。因此，我们最近开发，验证和实施了一种新的方法，该方法使用长读单分子测序来识别具有FMR 1前突变的女性中的AGG中断。在这里，我们报告的资产AGG中断检测测序和实施遗传咨询的影响。
The fragile X syndrome arises from the FMR1 CGG expansion of a premutation (55–200 repeats) to a full mutation allele (>200 repeats) and is the most frequent cause of inherited X-linked intellectual disability. The risk for a premutation to expand to a full mutation allele depends on the repeat length and AGG triplets interrupting this repeat. In genetic counseling it is important to have information on both these parameters to provide an accurate risk estimate to women carrying a premutation allele and weighing up having children. For example, in case of a small risk a woman might opt for a natural pregnancy followed up by prenatal diagnosis while she might choose for preimplantation genetic diagnosis (PGD) if the risk is high. Unfortunately, the detection of AGG interruptions was previously hampered by technical difficulties complicating their use in diagnostics. Therefore we recently developed, validated and implemented a new methodology which uses long-read single-molecule sequencing to identify AGG interruptions in females with a FMR1 premutation. Here we report on the assets of AGG interruption detection by sequencing and the impact of implementing the assay on genetic counseling.
登录
查看更多内容
影响因子：
56.9
作者：
OBERLE, I;ROUSSEAU, F;MANDEL, JL
通讯作者：
MANDEL, JL
影响因子：
7.2
作者：
Cronister, Amy;Teicher, Jennifer;Hallam, Stephanie
通讯作者：
Hallam, Stephanie
影响因子：
3.5
作者：
Chen, LS;Tassone, F;Hagerman, PJ
通讯作者：
Hagerman, PJ
影响因子：
6.1
作者：
Dimitriadou, Eftychia;Melotte, Cindy;Vermeesch, Joris Robert
通讯作者：
Vermeesch, Joris Robert
影响因子：
64.5
作者：
KUNST, CB;WARREN, ST
通讯作者：
WARREN, ST