Wright Dale Cameron, Baluyot Maria Lourdes, Carmichael Johanna, Darmanian Artur, Jose Ngaire, Ngo Con, Heaps Luke St, Yendle Amber, Holman Katherine, Ziso Sylvia, Khan Feroza, Masi Anne, Silove Natalie, Eapen Valsa
Cytogenetics Department, Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.
Am J Med Genet A. 2023 Dec;191(12):2913-2920. doi: 10.1002/ajmg.a.63400. Epub 2023 Sep 15.
Chromosomal microarray analysis (CMA) is typically performed for investigation of autism using blood DNA. However, blood collection poses significant challenges for autistic children with repetitive behaviors and sensory and communication issues, often necessitating physical restraint or sedation. Noninvasive saliva collection offers an alternative, however, no published studies to date have evaluated saliva DNA for CMA in autism. Furthermore, previous reports suggest that saliva is suboptimal for detecting copy number variation. We therefore aimed to evaluate saliva DNA for single nucleotide polymorphism (SNP) CMA in autistic children. Saliva DNA from 48 probands and parents (n = 133) was obtained with a mean concentration of 141.7 ng/μL. SNP CMA was successful in 131/133 (98.5%) patients from which we correlated the size and accuracy of a copy number variant(s) called between a proband and carrier parent, and for a subgroup (n = 17 probands) who had a previous CMA using blood sample. There were no discordant copy number variant results between the proband and carrier parent, or the subgroup, however, there was an acceptable mean size difference of 0.009 and 0.07 Mb, respectively. Our findings demonstrate that saliva DNA can be an alternative for SNP CMA in autism, which avoids blood collection with significant implications for clinical practice guidelines.
染色体微阵列分析（CMA）通常用于使用血液DNA对自闭症进行调查。然而，对于有重复行为、感觉和沟通问题的自闭症儿童来说，采血带来了重大挑战，往往需要身体约束或镇静。无创唾液采集提供了一种替代方法，然而，迄今为止尚无已发表的研究评估自闭症患者唾液DNA用于CMA的情况。此外，先前的报告表明，唾液在检测拷贝数变异方面并非最佳选择。因此，我们旨在评估自闭症儿童唾液DNA用于单核苷酸多态性（SNP）CMA的情况。从48名先证者及其父母（n = 133）获取了唾液DNA，平均浓度为141.7 ng/μL。133名患者中有131名（98.5%）成功进行了SNP CMA，我们将先证者与携带变异基因的父母之间检测到的拷贝数变异的大小和准确性进行了关联，并对之前使用血样进行过CMA的一个亚组（n = 17名先证者）进行了分析。先证者与携带变异基因的父母之间或该亚组之间均未出现拷贝数变异结果不一致的情况，不过，平均大小差异分别为0.009和0.07 Mb，这是可以接受的。我们的研究结果表明，唾液DNA可作为自闭症SNP CMA的替代方法，这避免了采血，对临床实践指南具有重要意义。
