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Using long-read sequencing to detect and subtype a case with Temple syndrome
| Description: | Temple syndrome is an imprinting disorder resulting from abnormal genomic or epigenomic aberrations of chromosome 14 including maternal uniparental disomy, paternal deletion of 14q32, or aberrant methylation of the imprinting control regions at 14q32. Understanding the underlying molecular mechanism is essential to understanding the recurrence risk and physical effects. Currently, diagnosis requires the detection of aberrant methylation and copy number loss via methylation-sensitive assays such as methylation-specific multiplex ligation-dependent probe amplification, and short tandem repeat analysis to detect maternal uniparental disomy and the presence of epimutation. Therefore, a one-step approach that can detect aberrant methylation and underlying genetic mechanisms would be of high clinical value. Here we use nanopore sequencing to delineate molecular diagnosis of a case with Temple syndrome. We demonstrate the application of nanopore sequencing to detect aberrant methylation and underlying genetic mechanisms simultaneously in this case, thus providing a proof of concept for a one-step approach for molecular diagnosis of this disorder. |
| Authors: | Dada, Sarah; Canada's Michael Smith Genome Sciences Centre;  0000-0002-3445-2377Akbari, Vahid; Canada's Michael Smith Genome Sciences Centre; 0000-0001-8005-7776Hejla, Duha; BC Children's Hospital Foundation Shen, Yaoqing; Canada's Michael Smith Genome Sciences Centre; 0000-0002-7978-0008Dixon, Katherine; Canada's Michael Smith Genome Sciences Centre; 0000-0002-7334-888XChoufani, Sanaa; Hospital for Sick Children; 0000-0002-5241-2213Weksberg, Rosanna; Hospital for Sick Children; 0000-0002-6501-4150Boerkoel, Cornelius; University of British Columbia; 0000-0003-3097-241XStewart, Laura; BC Children's Hospital Foundation Schlade-Bartusiak, Kamilla; BC Children's Hospital Foundation; 0000-0003-3226-7423Strong, Emma; University of British Columbia Fox, Danya; BC Children's Hospital Foundation Gamu, Daniel; University of British Columbia Gibson, William; BC Children's Hospital Foundation; 0000-0002-6552-402XJones, Steven; Canada's Michael Smith Genome Sciences Centre; 0000-0003-3394-2208 |
| Keywords: | Nanopore sequencing DNA methylation Imprinting Temple syndrome |
| Field of Research: | Biological sciences > Genetics > Molecular genetics
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| Publication Date: | 2024-12-06 |
| Publisher: | Federated Research Data Repository / dépôt fédéré de données de recherche |
| Funder: | Canadian Institutes of Health Research; PJT-168982 and PJT-185999 BC Cancer Rising Stars Award Canada Research Chairs program BC Children’s Hospital Research Institute; Intramural IGAP award |
| URI: | https://doi.org/10.20383/103.0963 |
| Geographic Coverage: | Place Name North America City Vancouver Province / Province / Territory British Columbia Territory Country Canada |
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Creative Commons Attribution 4.0 International (CC BY 4.0) https://creativecommons.org/licenses/by/4.0/
Citation
Dada, S., Akbari, V., Hejla, D., Shen, Y., Dixon, K., Choufani, S., Weksberg, R., Boerkoel, C., Stewart, L., Schlade-Bartusiak, K., Strong, E., Fox, D., Gamu, D., Gibson, W., Jones, S. (2024). Using long-read sequencing to detect and subtype a case with Temple syndrome. Federated Research Data Repository. https://doi.org/10.20383/103.0963
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