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首页> 外文期刊>Sexual development: genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation >Novel Genetic Associations and Range of Phenotypes in Children with Disorders of Sex Development and Neurodevelopment: Insights from the Deciphering Developmental Disorders Study
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Novel Genetic Associations and Range of Phenotypes in Children with Disorders of Sex Development and Neurodevelopment: Insights from the Deciphering Developmental Disorders Study

机译：性发育和神经发育障碍儿童的新型遗传关联和表型范围：从破译性发育障碍研究中得出的见解

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摘要

A range of phenotypes that are associated with disorders of sex development (DSD) may also be encountered in patients with neurodevelopmental delay. In this study we have undertaken a collaborative retrospective review of anonymised phenotypic and genotypic data from the UK-wide Deciphering Developmental Disorders (DDD) study. Our objectives were to determine the frequency and range of DSD phenotypes observed in participants in the DDD study and to identify novel genetic associations. We found that of 7,439 DDD participants, 603 (8%) had at least one genital abnormality. In addition, we found that DSD occurs in 5% of patients with learning difficulties. Causative mutations were found in 13 developmental genes, of which, crucially, 6 had no previous reported association with DSD. Our findings indicate that recognition of these associations should not be overlooked in the management of patients with complex conditions and that exomic sequencing through projects like DDD increases diagnostic yield. (C) 2016 S. Karger AG, Basel
机译：在神经发育迟缓的患者中也可能遇到与性发育障碍（DSD）相关的一系列表型。在这项研究中，我们进行了一项协作回顾性研究，回顾了来自英国范围内的解读发展障碍（DDD）研究的匿名表型和基因型数据。我们的目标是确定DDD研究参与者中观察到的DSD表型的频率和范围，并确定新的遗传关联。我们发现在7,439名DDD参与者中，有603名（8％）患有至少一种生殖器异常。此外，我们发现DSD发生在有学习困难的患者中5％。在13个发育基因中发现了致病性突变，其中至关重要的是，6个以前没有与DSD相关的报道。我们的研究结果表明，在处理具有复杂状况的患者时，不应忽视对这些关联的识别，并且通过DDD等项目进行的外显子测序可提高诊断率。 （C）2016 S.Karger AG，巴塞尔

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