Long-read Nanopore sequencing identified D4Z4 contractions in patients with facioscapulohumeral muscular dystrophy
Issued Date
2023-07-01
Resource Type
ISSN
09608966
eISSN
18732364
Scopus ID
2-s2.0-85161473742
Journal Title
Neuromuscular Disorders
Volume
33
Issue
7
Start Page
551
End Page
556
Rights Holder(s)
SCOPUS
Bibliographic Citation
Neuromuscular Disorders Vol.33 No.7 (2023) , 551-556
Suggested Citation
Yeetong P. Long-read Nanopore sequencing identified D4Z4 contractions in patients with facioscapulohumeral muscular dystrophy. Neuromuscular Disorders Vol.33 No.7 (2023) , 551-556. 556. doi:10.1016/j.nmd.2023.05.004 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/87448
Title
Long-read Nanopore sequencing identified D4Z4 contractions in patients with facioscapulohumeral muscular dystrophy
Author(s)
Other Contributor(s)
Abstract
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disorder caused by abnormal expression of the DUX4 protein, commonly resulting from a contraction of D4Z4 repeat units with the presence of a polyadenylation (polyA) signal. More than 10 units of the D4Z4 repeat, with a length of 3.3 kb per unit, are typically required to silence DUX4 expression. Consequently, molecular diagnosis of FSHD is challenging. We used Oxford Nanopore technology to perform whole-genome sequencing of seven unrelated patients with FSHD, their six unaffected parents, and 10 unaffected controls. All seven patients were successfully identified to harbor one to five D4Z4 repeat units and the polyA signal, whereas none of the 16 unaffected individuals met the molecular diagnostic criteria. Our newly developed method provides a straightforward and powerful molecular diagnostic tool for FSHD.
