PDF(Pubmed)
Abstract：
This case report chronicles the diagnostic odyssey and resolution of a 27-year-old female with a complex neurodevelopmental disorder (NDD) using Whole Exome Sequencing (WES). The patient presented to a precision medicine clinic with multiple diagnoses including intellectual disability, autism spectrum disorder (ASD), obsessive-compulsive disorder (OCD), tics, seizures, and pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS). Although this patient previously had chromosomal microarray and several single-gene tests, the underlying cause of this patient\'s symptoms remained elusive. WES revealed a pathogenic missense mutation in the HNRNPU gene, associated with HNRNPU-related neurodevelopmental disorder (HNRNPU-NDD) and developmental and epileptic encephalopathy-54 (DEE54, OMIM: # 617391). Following this diagnoses, other treating clinicians identified additional indications for genetic testing, however, as the WES data was readily available, the clinical team was able to re-analyze the WES data to address their inquiries without requiring additional tests. This emphasizes the pivotal role of WES in expediting diagnoses, reducing costs, and providing ongoing clinical utility throughout a patient\'s life. Accessible WES data in primary care settings can enhance patient care by informing future genetic inquiries, enhancing coordination of care, and facilitating precision medicine interventions, thereby mitigating the burden on families and the healthcare system.
摘要：
该病例报告使用全外显子组测序（WES）记录了一名27岁女性患有复杂的神经发育障碍（NDD）的诊断和解决方法。该患者被送往精密医学诊所，患有多种诊断，包括智力残疾，自闭症谱系障碍（ASD），强迫症（强迫症），Tics,癫痫发作,与链球菌感染相关的儿科自身免疫性神经精神疾病（PANDAS）。尽管该患者先前进行了染色体微阵列和几种单基因测试，该患者症状的根本原因仍然难以捉摸。WES揭示了HNRNPU基因的致病性错义突变，与HNRNPU相关的神经发育障碍（HNRNPU-NDD）和发育性和癫痫性脑病-54（DEE54，OMIM：#617391）相关。在这个诊断之后，其他治疗临床医生确定了基因检测的其他适应症，然而,由于WES数据很容易获得，临床团队能够重新分析WES数据以解决他们的询问,而不需要额外的检查.这强调了WES在加速诊断中的关键作用，降低成本,并在患者一生中提供持续的临床效用。初级保健环境中的可访问WES数据可以通过通知未来的遗传查询来增强患者护理。加强护理协调，促进精准医学干预，从而减轻家庭和医疗保健系统的负担。
