成人自闭症谱系障碍患者中阵列比较基因组杂交的诊断产量。

Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders.

机构信息

1] Department of Neurology, University of Washington, Seattle, Washington, USA [2] Department of Psychiatry, University of Washington, Seattle, Washington, USA.

Department of Pathology, University of Washington, Seattle, Washington, USA.

出版信息

Genet Med. 2014 Jan;16(1):70-7. doi: 10.1038/gim.2013.78. Epub 2013 Jun 13.

DOI:10.1038/gim.2013.78

PMID:23765050

Abstract

PURPOSE

Array comparative genomic hybridization is available for the evaluation of autism spectrum disorders. The diagnostic yield of testing is 5-18% in children with developmental disabilities, including autism spectrum disorders and multiple congenital anomalies. The yield of array comparative genomic hybridization in the adult autism spectrum disorder population is unknown.

METHODS

We performed a retrospective chart review for 40 consecutive patients referred for genetic evaluation of autism from July 2009 through April 2012. Four pediatric patients were excluded. Medical history and prior testing were reviewed. Clinical genetic evaluation and testing were offered to all patients.

RESULTS

The study population comprised 36 patients (age range 18-45, mean 25.3 years). An autism spectrum disorder diagnosis was confirmed in 34 of 36 patients by medical record review. One patient had had an abnormal karyotype; none had prior array comparative genomic hybridization testing. Of the 23 patients with autism who underwent array comparative genomic hybridization, 2 of 23 (8.7%) had pathogenic or presumed pathogenic abnormalities and 2 of 23 (8.7%) had likely pathogenic copy-number variants. An additional 5 of 23 (22%) of autism patients had variants of uncertain significance without subclassification.

CONCLUSION

Including one patient newly diagnosed with fragile X syndrome, our data showed abnormal or likely pathogenic findings in 5 of 24 (21%) adult autism patients. Genetic reevaluation in adult autism patients is warranted.

摘要

目的

数组比较基因组杂交可用于评估自闭症谱系障碍。在包括自闭症谱系障碍和多种先天性异常在内的发育障碍儿童中，检测的诊断率为 5-18%。成人自闭症谱系障碍患者中数组比较基因组杂交的检出率尚不清楚。

方法

我们对 2009 年 7 月至 2012 年 4 月期间因自闭症进行遗传评估而连续转诊的 40 例患者进行了回顾性图表审查。排除了 4 例儿科患者。回顾了病史和先前的检测。向所有患者提供了临床遗传评估和检测。

结果

研究人群包括 36 例患者（年龄 18-45 岁，平均 25.3 岁）。通过病历审查确认了 36 例患者中的 34 例自闭症谱系障碍诊断。1 例患者存在染色体异常；均无先前的数组比较基因组杂交检测。在接受数组比较基因组杂交检测的 23 例自闭症患者中，23 例中的 2 例（8.7%）存在致病性或疑似致病性异常，23 例中的 2 例（8.7%）存在可能致病性拷贝数变异。另外，23 例自闭症患者中的 5 例（22%）的变异无明确意义，未进行亚分类。