Journal article
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability
DI Francis, Z Stark, IE Scheffer, TY Tan, K Murali, L Gallacher, DJ Amor, H Goel, L Downie, CA Stutterd, EI Krzesinski, A Vasudevan, R Oertel, V Petrovic, A Boys, V Wei, T Burgess, K Dun, KL Oliver, A Baxter Show all
European Journal of Human Genetics | Published : 2023
Abstract
We aimed to determine whether SNP-microarray genomic testing of saliva had a greater diagnostic yield than blood for pathogenic copy number variants (CNVs). We selected patients who underwent CMA testing of both blood and saliva from 23,289 blood and 21,857 saliva samples. Our cohort comprised 370 individuals who had testing of both, 224 with syndromic intellectual disability (ID) and 146 with isolated ID. Mosaic pathogenic CNVs or aneuploidy were detected in saliva but not in blood in 20/370 (4.4%). All 20 individuals had syndromic ID, accounting for 9.1% of the syndromic ID sub-cohort. Pathogenic CNVs were large in size (median of 46 Mb), and terminal in nature, with median mosaicism of 27..
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Funding Acknowledgements
The research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program. Funding was provided by the National Health and Medical Research Institute of Australia. Open Access funding enabled and organized by CAUL and its Member Institutions.