Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges Article Swipe
Stéphanie Efthymiou
,
Richard J.L.F. Lemmers
,
Venugopalan Y. Vishnu
,
Natalia Dominik
,
Benedetta Perrone
,
Stefano Facchini
,
Elisa Vegezzi
,
Sabrina Ravaglia
,
Lindsay Wilson
,
Patrick J. van der Vliet
,
Rinkle Mishra
,
Alisha Reyaz
,
Tanveer Ahmad
,
Rohit Bhatia
,
James M. Polke
,
MV Padma Srivastava
,
Andrea Cortese
,
Henry Houlden
,
Silvère M. van der Maarel
,
Michael G. Hanna
,
Enrico Bugiardini
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.3390/biom13111567
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.3390/biom13111567
Facioscapulohumeral muscular dystrophy (FSHD) is the second most common muscular dystrophy in adults, and it is associated with local D4Z4 chromatin relaxation, mostly via the contraction of the D4Z4 macrosatellite repeat array on chromosome 4q35. In this study, we aimed to investigate the use of Optical Genome Mapping (OGM) as a diagnostic tool for testing FSHD cases from the UK and India and to compare OGM performance with that of traditional techniques such as linear gel (LGE) and Pulsed-field gel electrophoresis (PFGE) Southern blotting (SB). A total of 6 confirmed and 19 suspected FSHD samples were processed with LGE and PFGE, respectively. The same samples were run using a Saphyr Genome-Imaging Instrument (1-color), and the data were analysed using custom EnFocus FSHD analysis. OGM was able to confirm the diagnosis of FSHD1 in all FSHD1 cases positive for SB (n = 17), and D4Z4 sizing highly correlated with PFGE-SB (p < 0.001). OGM correctly identified cases with mosaicism for the repeat array contraction (n = 2) and with a duplication of the D4Z4 repeat array. OGM is a promising new technology able to unravel structural variants in the genome and seems to be a valid tool for diagnosing FSHD1.
Related Topics
Concepts
Facioscapulohumeral muscular dystrophy
Pulsed-field gel electrophoresis
Muscular dystrophy
Genome
Genetics
Computational biology
Biology
Genotype
Gene
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3390/biom13111567
- https://www.mdpi.com/2218-273X/13/11/1567/pdf?version=1698130731
- OA Status
- gold
- Cited By
- 16
- References
- 25
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4387903963
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4387903963Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.3390/biom13111567Digital Object Identifier
- Title
-
Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and ChallengesWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2023Year of publication
- Publication date
-
2023-10-24Full publication date if available
- Authors
-
Stéphanie Efthymiou, Richard J.L.F. Lemmers, Venugopalan Y. Vishnu, Natalia Dominik, Benedetta Perrone, Stefano Facchini, Elisa Vegezzi, Sabrina Ravaglia, Lindsay Wilson, Patrick J. van der Vliet, Rinkle Mishra, Alisha Reyaz, Tanveer Ahmad, Rohit Bhatia, James M. Polke, MV Padma Srivastava, Andrea Cortese, Henry Houlden, Silvère M. van der Maarel, Michael G. Hanna, Enrico BugiardiniList of authors in order
- Landing page
-
https://doi.org/10.3390/biom13111567Publisher landing page
- PDF URL
-
https://www.mdpi.com/2218-273X/13/11/1567/pdf?version=1698130731Direct link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://www.mdpi.com/2218-273X/13/11/1567/pdf?version=1698130731Direct OA link when available
- Concepts
-
Facioscapulohumeral muscular dystrophy, Pulsed-field gel electrophoresis, Muscular dystrophy, Genome, Genetics, Computational biology, Biology, Genotype, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
16Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 7, 2024: 9Per-year citation counts (last 5 years)
- References (count)
-
25Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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