Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development.
Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development.
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DOI：
10.1111/j.1399-0004.2012.01879.x
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发表时间：
2013-01
影响因子：
3.5
通讯作者：
Vilain E
中科院分区：
文献类型：
--
作者：
Arboleda VA;Lee H;Sánchez FJ;Délot EC;Sandberg DE;Grody WW;Nelson SF;Vilain E
性发育障碍(DSD)是一种罕见的疾病，在染色体、性腺和表型性别之间存在不协调。只有少数临床诊断为DSD的患者获得了分子诊断，这使得我们对受影响患者的患病率、治疗和结果的理解存在很大差距。我们创造了一种新的DSD遗传诊断工具，其中性发育基因使用RNA探针捕获并进行大规模并行测序。在14名先导组患者中，我们确定了性染色体剂量、拷贝数变异和基因突变。在已知基因诊断的患者中(无论是在临床上还是在研究的基础上获得)，这项测试在100%(7/7)的患者中确定了分子原因。在没有进行分子诊断的患者中，该工具确定了七名患者中的两名进行了基因诊断。与目前的诊断方法相比，对代表特定疾病谱的基因进行定向测序可以产生更高的遗传诊断率。我们的DSD诊断工具首次在一次血液测试中为出现各种泌尿生殖系统异常的患者提供了全面的基因诊断。
Disorders of sex development (DSD) are rare disorders in which there is discordance between chromosomal, gonadal, and phenotypic sex. Only a minority of patients clinically diagnosed with DSD obtains a molecular diagnosis, leaving a large gap in our understanding of the prevalence, management, and outcomes in affected patients. We created a novel DSD-genetic diagnostic tool, in which sex development genes are captured using RNA probes and undergo massively parallel sequencing. In the pilot group of 14 patients, we determined sex chromosome dosage, copy number variation, and gene mutations. In the patients with a known genetic diagnosis (obtained either on a clinical or research basis), this test identified the molecular cause in 100% (7/7) of patients. In patients in whom no molecular diagnosis had been made, this tool identified a genetic diagnosis in two of seven patients. Targeted sequencing of genes representing a specific spectrum of disorders can result in a higher rate of genetic diagnoses than current diagnostic approaches. Our DSD diagnostic tool provides for first time, in a single blood test, a comprehensive genetic diagnosis in patients presenting with a wide range of urogenital anomalies.
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影响因子：
5.8
作者：
Sathirapongsasuti, Jarupon Fah;Lee, Hane;Nelson, Stanley F.
通讯作者：
Nelson, Stanley F.
影响因子：
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作者：
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DOI：
10.1073/pnas.1007983107
发表时间：
2010-07-13
影响因子：
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作者：
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通讯作者：
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影响因子：
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作者：
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通讯作者：
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