Using long-read sequencing to detect and subtype a case with Temple syndrome

Dada, Sarah

https://ror.org/0333j0897

Canada's Michael Smith Genome Sciences Centre

https://orcid.org/0000-0002-3445-2377

Akbari, Vahid

https://ror.org/0333j0897

Canada's Michael Smith Genome Sciences Centre

https://orcid.org/0000-0001-8005-7776

Hejla, Duha

https://ror.org/01xesb955

BC Children's Hospital Foundation

Shen, Yaoqing

https://ror.org/0333j0897

Canada's Michael Smith Genome Sciences Centre

https://orcid.org/0000-0002-7978-0008

Dixon, Katherine

https://ror.org/0333j0897

Canada's Michael Smith Genome Sciences Centre

https://orcid.org/0000-0002-7334-888X

Choufani, Sanaa

https://ror.org/057q4rt57

Hospital for Sick Children

https://orcid.org/0000-0002-5241-2213

Weksberg, Rosanna

https://ror.org/057q4rt57

Hospital for Sick Children

https://orcid.org/0000-0002-6501-4150

Boerkoel, Cornelius

https://ror.org/03rmrcq20

University of British Columbia

https://orcid.org/0000-0003-3097-241X

Stewart, Laura

https://ror.org/01xesb955

BC Children's Hospital Foundation

Schlade-Bartusiak, Kamilla

https://ror.org/01xesb955

BC Children's Hospital Foundation

https://orcid.org/0000-0003-3226-7423

Strong, Emma

https://ror.org/03rmrcq20

University of British Columbia

Fox, Danya

https://ror.org/01xesb955

BC Children's Hospital Foundation

Gamu, Daniel

https://ror.org/03rmrcq20

University of British Columbia

Gibson, William

https://ror.org/01xesb955

BC Children's Hospital Foundation

https://orcid.org/0000-0002-6552-402X

Jones, Steven

https://ror.org/0333j0897

Canada's Michael Smith Genome Sciences Centre

https://orcid.org/0000-0003-3394-2208

2024-12-06T19:51:31Z

2024-12-06T19:51:31Z

2024-12-06

https://doi.org/10.20383/103.0963

https://www.frdr-dfdr.ca/repo/dataset/ae341a1b-e19b-4a65-a064-009f71848db1

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.

Federated Research Data Repository / dépôt fédéré de données de recherche

Creative Commons Attribution 4.0 International (CC BY 4.0)

https://creativecommons.org/licenses/by/4.0/

Nanopore sequencing

DNA methylation

Imprinting

Temple syndrome

Using long-read sequencing to detect and subtype a case with Temple syndrome

f163c1b3-9c88-42f6-a7bb-5839ed6c4063

/1/published/publication_958/

2024

Dataset

North America;Vancouver;British Columbia;Canada

https://ror.org/01gavpb45

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

RDF1060614

Biological sciences

Genetics

Molecular genetics

Sciences biologiques

Génétique

Génétique moléculaire