Gazdagh Gabriella, Tobias Edward S, Ahmed S Faisal, McGowan Ruth
West of Scotland Regional Genetics Service, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, UK.
Sex Dev. 2016;10(3):130-5. doi: 10.1159/000447958. Epub 2016 Sep 2.
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.
一系列与性发育障碍（DSD）相关的表型也可能出现在神经发育迟缓的患者中。在本研究中，我们对全英国范围内的发育障碍解析（DDD）研究中的匿名表型和基因型数据进行了合作性回顾。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，并识别新的基因关联。我们发现，在7439名DDD参与者中，603人（8%）至少有一处生殖器异常。此外，我们发现5%有学习困难的患者患有DSD。在13个发育基因中发现了致病突变，其中关键的是，有6个基因此前未报道与DSD有关联。我们的研究结果表明，在复杂病情患者的管理中，不应忽视对这些关联的认识，并且通过DDD这样的项目进行外显子组测序可提高诊断率。
