Ann Lab Med.  2024 Sep;44(5):383-384. 10.3343/alm.2024.0197.

Application of Optical Genome Mapping to the Genetic Diagnosis of Facioscapulohumeral Muscular Dystrophy 1

• Lee ST

• KMID: 2559143
• DOI: http://doi.org/10.3343/alm.2024.0197

Keyword

Facioscapulohumeral muscular dystrophy; Optical genome mapping; Structural variation

Reference

References

1. Feuk L, Carson AR, Scherer SW. 2006; Structural variation in the human genome. Nat Rev Genet. 7:85–97. DOI: 10.1038/nrg1767. PMID: 16418744.

2. Goodwin S, McPherson JD, McCombie WR. 2016; Coming of age: ten years of next-generation sequencing technologies. Nat Rev Genet. 17:333–51. DOI: 10.1038/nrg.2016.49. PMID: 27184599. PMCID: PMC10373632.

3. Vieler LM, Nilius-Eliliwi V, Schroers R, Vangala DB, Nguyen HP, Gerding WM. 2023; Optical genome mapping reveals and characterizes recurrent aberrations and new fusion genes in adult ALL. Genes (Basel). 14:686. DOI: 10.3390/genes14030686. PMID: 36980958. PMCID: PMC10048194. PMID: 36665d2ffb06477f93a6a03f81bba594.

4. Giguère A, Raymond-Bouchard I, Collin V, Claveau JS, Hébert J, LeBlanc R. 2023; Optical genome mapping reveals the complex genetic landscape of myeloma. Cancers (Basel). 15:4687. DOI: 10.3390/cancers15194687. PMID: 37835381. PMCID: PMC10571866. PMID: 973f1089d0044ae5856d609d42b4cf80.

5. Neveling K, Mantere T, Vermeulen S, Oorsprong M, van Beek R, Kater-Baats E, et al. 2021; Next-generation cytogenetics: comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping. Am J Hum Genet. 108:1423–35. DOI: 10.1016/j.ajhg.2021.06.001. PMID: 34237281. PMCID: PMC8387283.

6. Shim Y, Koo YK, Shin S, Lee ST, Lee KA, Choi JR. 2024; Comparison of optical genome mapping with conventional diagnostic methods for structural variant detection in hematologic malignancies. Ann Lab Med. 44:324–34. DOI: 10.3343/alm.2023.0339. PMID: 38433573. PMCID: PMC10961627.

7. Shim Y, Lee J, Seo J, Park CK, Shin S, Han H, et al. 2022; Optical genome mapping identifies clinically relevant genomic rearrangements in prostate cancer biopsy sample. Cancer Cell Int. 22:306. DOI: 10.1186/s12935-022-02728-2. PMID: 36209207. PMCID: PMC9548106. PMID: bd6931b0a304437f85397a78c6d0c1ab.

8. Cheng Y, Dong L, Bu D, Han L, Zhao Y, Liu J, et al. 2024; Optical genome mapping reveals the landscape of structural variations and their clinical significance in HBOC-related breast cancer. Front Biosci (Landmark Ed). 29:2. DOI: 10.31083/j.fbl2901002. PMID: 38287797. PMID: 60da283f3e8348bb81464d63bb4727fd.

9. Zhang Q, Wang Y, Xu Y, Zhou R, Huang M, Qiao F, et al. 2023; Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis. Acta Obstet Gynecol Scand. 102:1053–62. DOI: 10.1111/aogs.14613. PMID: 37366235. PMCID: PMC10378017.

10. de Bruijn SE, Rodenburg K, Corominas J, Ben-Yosef T, Reurink J, Kremer H, et al. 2023; Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes. Genet Med. 25:100345. DOI: 10.1016/j.gim.2022.11.013. PMID: 36524988.

11. Mantere T, Neveling K, Pebrel-Richard C, Benoist M, van der Zande G, Kater-Baats E, et al. 2021; Optical genome mapping enables constitutional chromosomal aberration detection. Am J Hum Genet. 108:1409–22. DOI: 10.1016/j.ajhg.2021.05.012. PMID: 34237280. PMCID: PMC8387289.

12. Facchini S, Dominik N, Manini A, Efthymiou S, Currò R, Rugginini B, et al. 2023; Optical genome mapping enables detection and accurate sizing of RFC1 repeat expansions. Biomolecules. 13:1546. DOI: 10.3390/biom13101546. PMID: 37892228. PMCID: PMC10605474. PMID: d715037490c640d5992b6548706932e7.

13. Flanigan KM, Coffeen CM, Sexton L, Stauffer D, Brunner S, Leppert MF. 2001; Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy. Neuromuscul Disord. 11:525–9. DOI: 10.1016/S0960-8966(01)00201-2. PMID: 11525880.

14. Tawil R, van der Maarel SM, Tapscott SJ. 2014; Facioscapulohumeral dystrophy: the path to consensus on pathophysiology. Skelet Muscle. 4:12. DOI: 10.1186/2044-5040-4-12. PMID: 24940479. PMCID: PMC4060068.

15. Hamel J, Tawil R. 2018; Facioscapulohumeral muscular dystrophy: update on pathogenesis and future treatments. Neurotherapeutics. 15:863–71. DOI: 10.1007/s13311-018-00675-3. PMID: 30361930. PMCID: PMC6277282.

16. Shim Y, Seo J, Lee ST, Choi JR, Choi YC, Shin S, et al. 2024; Clinical application of optical genome mapping for molecular diagnosis of facioscapulohumeral muscular dystrophy. Ann Lab Med. 44:437–45. DOI: 10.3343/alm.2023.0437. PMID: 38724225.